Search

Your search keyword '"Jähn, Johanna A."' showing total 37 results
Start Over Author "Jähn, Johanna A."
37 results on '"Jähn, Johanna A."'

1. The Human Phenotype Ontology in 2017

Author

Köhler, Sebastian, Vasilevsky, Nicole A, Engelstad, Mark, Foster, Erin, McMurry, Julie, Aymé, Ségolène, Baynam, Gareth, Bello, Susan M, Boerkoel, Cornelius F, Boycott, Kym M, Brudno, Michael, Buske, Orion J, Chinnery, Patrick F, Cipriani, Valentina, Connell, Laureen E, Dawkins, Hugh JS, DeMare, Laura E, Devereau, Andrew D, de Vries, Bert BA, Firth, Helen V, Freson, Kathleen, Greene, Daniel, Hamosh, Ada, Helbig, Ingo, Hum, Courtney, Jähn, Johanna A, James, Roger, Krause, Roland, Laulederkind, Stanley JF, Lochmüller, Hanns, Lyon, Gholson J, Ogishima, Soichi, Olry, Annie, Ouwehand, Willem H, Pontikos, Nikolas, Rath, Ana, Schaefer, Franz, Scott, Richard H, Segal, Michael, Sergouniotis, Panagiotis I, Sever, Richard, Smith, Cynthia L, Straub, Volker, Thompson, Rachel, Turner, Catherine, Turro, Ernest, Veltman, Marijcke WM, Vulliamy, Tom, Yu, Jing, von Ziegenweidt, Julie, Zankl, Andreas, Züchner, Stephan, Zemojtel, Tomasz, Jacobsen, Julius OB, Groza, Tudor, Smedley, Damian, Mungall, Christopher J, Haendel, Melissa, and Robinson, Peter N

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Networking and Information Technology R&D (NITRD), Human Genome, 2.6 Resources and infrastructure (aetiology), 4.5 Resources and infrastructure (detection), Generic health relevance, Good Health and Well Being, Algorithms, Biological Ontologies, Computational Biology, Genetic Association Studies, Genomics, Humans, Phenotype, Precision Medicine, Rare Diseases, Software, Translational Research, Biomedical, Environmental Sciences, Information and Computing Sciences, Developmental Biology, Biological sciences, Chemical sciences, Environmental sciences
Abstract

Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.human-phenotype-ontology.org) project are the phenotype vocabulary, disease-phenotype annotations and the algorithms that operate on these. These components are being used for computational deep phenotyping and precision medicine as well as integration of clinical data into translational research. The HPO is being increasingly adopted as a standard for phenotypic abnormalities by diverse groups such as international rare disease organizations, registries, clinical labs, biomedical resources, and clinical software tools and will thereby contribute toward nascent efforts at global data exchange for identifying disease etiologies. This update article reviews the progress of the HPO project since the debut Nucleic Acids Research database article in 2014, including specific areas of expansion such as common (complex) disease, new algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition of patient-friendly terminology.

Published
2017

2. De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Author

Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R, Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S, Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Pendziwiat, Manuela, Robbiano, Angela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M, Sisodiya, Sanjay, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weber, Yvonne, Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K, Andermann, Eva, Andermann, Frederick, Amron, Dina, Bautista, Jocelyn F, Berkovic, Samuel F, Bluvstein, Judith, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P, Fiol, Miguel, Fountain, Nathan B, French, Jacqueline, Friedman, Daniel, Geller, Eric B, Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R, Hayward, Jean, Helmers, Sandra L, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E, Knowlton, Robert C, Kossoff, Eric H, Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H, McGuire, Shannon M, Motika, Paul V, Novotny, Edward J, Ottman, Ruth, Paolicchi, Juliann M, Parent, Jack, Park, Kristen, Poduri, Annapurna, Sadleir, Lynette, Scheffer, Ingrid E, Shellhaas, Renée A, Sherr, Elliott, Shih, Jerry J, Singh, Rani, Sirven, Joseph, Smith, Michael C, Sullivan, Joe, and Thio, Liu Lin

Subjects
Genetics, Pediatric, Neurosciences, Epilepsy, Brain Disorders, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Cohort Studies, Dynamin I, Exome, Fatty Acid Synthase, Type I, Female, Gene Regulatory Networks, Humans, Infant, Newborn, Lennox Gastaut Syndrome, Male, Mutation, Protein Interaction Maps, Receptors, GABA-B, Ryanodine Receptor Calcium Release Channel, Spasms, Infantile, Synaptic Transmission, EuroEPINOMICS-RES Consortium, Epilepsy Phenome/Genome Project, Epi4K Consortium, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further define the genetic landscape. Through a collaboration between two consortia (EuroEPINOMICS and Epi4K/EPGP), we analyzed exome-sequencing data of 356 trios with the "classical" epileptic encephalopathies, infantile spasms and Lennox Gastaut syndrome, including 264 trios previously analyzed by the Epi4K/EPGP consortium. In this expanded cohort, we find 429 de novo mutations, including de novo mutations in DNM1 in five individuals and de novo mutations in GABBR2, FASN, and RYR3 in two individuals each. Unlike previous studies, this cohort is sufficiently large to show a significant excess of de novo mutations in epileptic encephalopathy probands compared to the general population using a likelihood analysis (p = 8.2 × 10(-4)), supporting a prominent role for de novo mutations in epileptic encephalopathies. We bring statistical evidence that mutations in DNM1 cause epileptic encephalopathy, find suggestive evidence for a role of three additional genes, and show that at least 12% of analyzed individuals have an identifiable causal de novo mutation. Strikingly, 75% of mutations in these probands are predicted to disrupt a protein involved in regulating synaptic transmission, and there is a significant enrichment of de novo mutations in genes in this pathway in the entire cohort as well. These findings emphasize an important role for synaptic dysregulation in epileptic encephalopathies, above and beyond that caused by ion channel dysfunction.

Published
2014

4. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

Author

Hardies, Katia, de Kovel, Carolien G. F., Weckhuysen, Sarah, Asselbergh, Bob, Geuens, Thomas, Deconinck, Tine, Azmi, Abdelkrim, May, Patrick, Brilstra, Eva, Becker, Felicitas, Barisic, Nina, Craiu, Dana, Braun, Kees P.J., Lal, Dennis, Thiele, Holger, Schubert, Julian, Weber, Yvonne, van ‘t Slot, Ruben, Nürnberg, Peter, Balling, Rudi, Timmerman, Vincent, Lerche, Holger, Maudsley, Stuart, Helbig, Ingo, Suls, Arvid, Koeleman, Bobby P.C., De Jonghe, Peter, Afawi, Zaid, Baulac, Stéphanie, Caglayan, Hande, Lopez, Rosa Guerrero, Guerrini, Renzo, Hjalgrim, Helle, Jähn, Johanna, Klein, Karl Martin, Leguern, Eric, Lemke, Johannes, Marini, Carla, Muhle, Hiltrud, Rosenow, Felix, Serratosa, Jose, Štěrbová, Katalin, Moller, Rikke S., Striano, Pasquale, and Zara, Federico

Published
2015
Full Text
View/download PDF

5. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Author

Köhler, Sebastian, Doelken, Sandra C., Mungall, Christopher J., Bauer, Sebastian, Firth, Helen V., Bailleul-Forestier, Isabelle, Black, Graeme C. M., Brown, Danielle L., Brudno, Michael, Campbell, Jennifer, FitzPatrick, David R., Eppig, Janan T., Jackson, Andrew P., Freson, Kathleen, Girdea, Marta, Helbig, Ingo, Hurst, Jane A., Jähn, Johanna, Jackson, Laird G., Kelly, Anne M., Ledbetter, David H., Mansour, Sahar, Martin, Christa L., Moss, Celia, Mumford, Andrew, Ouwehand, Willem H., Park, Soo-Mi, Riggs, Erin Rooney, Scott, Richard H., Sisodiya, Sanjay, Van Vooren, Steven, Wapner, Ronald J., Wilkie, Andrew O. M., Wright, Caroline F., Vulto-van Silfhout, Anneke T., de Leeuw, Nicole, de Vries, Bert B. A., Washingthon, Nicole L., Smith, Cynthia L., Westerfield, Monte, Schofield, Paul, Ruef, Barbara J., Gkoutos, Georgios V., Haendel, Melissa, Smedley, Damian, Lewis, Suzanna E., and Robinson, Peter N.

Published
2014
Full Text
View/download PDF

6. A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

Author

Helbig, Ingo, primary, Lopez-Hernandez, Tania, additional, Shor, Oded, additional, Galer, Peter, additional, Ganesan, Shiva, additional, Pendziwiat, Manuela, additional, Rademacher, Annika, additional, Ellis, Colin A., additional, Hümpfer, Nadja, additional, Schwarz, Niklas, additional, Seiffert, Simone, additional, Peeden, Joseph, additional, Shen, Joseph, additional, Štěrbová, Katalin, additional, Hammer, Trine Bjørg, additional, Møller, Rikke S., additional, Shinde, Deepali N., additional, Tang, Sha, additional, Smith, Lacey, additional, Poduri, Annapurna, additional, Krause, Roland, additional, Benninger, Felix, additional, Helbig, Katherine L., additional, Haucke, Volker, additional, Weber, Yvonne G., additional, Balling, Rudi, additional, Barisic, Nina, additional, Baulac, Stéphanie, additional, Caglayan, Hande, additional, Craiu, Dana, additional, De Jonghe, Peter, additional, Depienne, Christel, additional, Guerrini, Renzo, additional, Hjalgrim, Helle, additional, Hoffman-Zacharska, Dorota, additional, Jähn, Johanna, additional, Klein, Karl Martin, additional, Koeleman, Bobby P.C., additional, Komarek, Vladimir, additional, Leguern, Eric, additional, Lehesjoki, Anna-Elina, additional, Lemke, Johannes R., additional, Lerche, Holger, additional, Linnankivi, Tarja, additional, Marini, Carla, additional, May, Patrick, additional, Muhle, Hiltrud, additional, Pal, Deb K., additional, Palotie, Aarno, additional, Rosenow, Felix, additional, Schubert-Bast, Susanne, additional, Selmer, Kaja, additional, Serratosa, Jose M., additional, Sisodiya, Sanjay, additional, Stephani, Ulrich, additional, Striano, Pasquale, additional, Suls, Arvid, additional, Talvik, Tiina, additional, von Spiczak, Sarah, additional, Weckhuysen, Sarah, additional, Zara, Federico, additional, Avillach, Paul, additional, Bartels, Anna, additional, Biswas, Sawona, additional, Bourgeois, Florence, additional, Devkota, Batsal, additional, Glauser, Tracy, additional, Hallinan, Barbara, additional, Heath, Allison, additional, Hirschhorn, Joel, additional, Kilbourn, Judson, additional, Kong, Sek Won, additional, Krantz, Ian, additional, Lee, In-Hee, additional, Mandl, Kenneth D., additional, Marsh, Eric, additional, Sund, Kristen, additional, Taylor, Deanne, additional, and White, Peter, additional

Published
2019
Full Text
View/download PDF

7. De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Author

Syrbe, Steffen, Hedrich, Ulrike B S, Arslan, Mutluay, Serratosa, José M, Nothnagel, Michael, May, Patrick, Krause, Roland, Löffler, Heidrun, Detert, Katja, Dorn, Thomas, Vogt, Heinrich, Krämer, Günter, Riesch, Erik, Schöls, Ludger, Mullis, Primus E, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Sterbova, Katalin, Craiu, Dana C, Hoffman-Zacharska, Dorota, Korff, Christian M, Weber, Yvonne G, Steinlin, Maja, Djémié, Tania, Gallati, Sabina, Bertsche, Astrid, Bernhard, Matthias K, Merkenschlager, Andreas, Kiess, Wieland, consortium, EuroEPINOMICS RES, Gonzalez, Michael, Züchner, Stephan, Palotie, Aarno, Suls, Arvid, Müller, Stephan, De Jonghe, Peter, Helbig, Ingo, Biskup, Saskia, Wolff, Markus, Maljevic, Snezana, Schüle, Rebecca, Sisodiya, Sanjay M, Weckhuysen, Sarah, Lerche, Holger, Lemke, Johannes R, Møller, Rikke S, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande S, Depienne, Christel, Gormley, Padhraig, Guerrini, Renzo, Maher, Bridget, Hjalgrim, Helle, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby P C, Komarek, Vladimir, LeGuern, Eric, Hernandez-Hernandez, Laura, Marini, Carla, Muhle, Hiltrud, Pal, Deb, Rosenow, Felix, Selmer, Kaja, Synofzik, Matthis, Stephani, Ulrich, Striano, Pasquale, Talvik, Tiina, von Spiczak, Sarah, Zara, Federico, and EuroEPINOMICS RES Consortium

Subjects
Adult, Male, Ataxia, genetics [Epilepsy], genetics [Kv1.2 Potassium Channel], Biology, medicine.disease_cause, Bioinformatics, Infantile, Epilepsy/genetics, Article, Spasms, Cohort Studies, Epilepsy, Young Adult, Spasms, Infantile/genetics, ddc:570, Amino Acid Sequence, Child, Child, Preschool, Female, Genetic Predisposition to Disease, Humans, Infant, Kv1.2 Potassium Channel, Pedigree, Spasms, Infantile, Mutation, Genetics, Intellectual disability, medicine, KCNA2 protein, human, Preschool, Loss function, Kv1.2 Potassium Channel/genetics, ddc:618, Genetic heterogeneity, Seizure types, genetics [Spasms, Infantile], medicine.disease, Myoclonic epilepsy, Human medicine, medicine.symptom
Abstract

Epileptic encephalopathies are a phenotypically and genetically heterogeneous group of severe epilepsies accompanied by intellectual disability and other neurodevelopmental features(1-6). Using next-generation sequencing, we identified four different de novo mutations in KCNA2, encoding the potassium channel K(V)1.2, in six isolated patients with epileptic encephalopathy (one mutation recurred three times independently). Four individuals presented with febrile and multiple afebrile, often focal seizure types, multifocal epileptiform discharges strongly activated by sleep, mild to moderate intellectual disability, delayed speech development and sometimes ataxia. Functional studies of the two mutations associated with this phenotype showed almost complete loss of function with a dominant-negative effect. Two further individuals presented with a different and more severe epileptic encephalopathy phenotype. They carried mutations inducing a drastic gain-of-function effect leading to permanently open channels. These results establish KCNA2 as a new gene involved in human neurodevelopmental disorders through two different mechanisms, predicting either hyperexcitability or electrical silencing of K(V)1.2-expressing neurons.

Published
2015

8. The phenotypic spectrum of SCN8A encephalopathy

Author

Larsen, Jan, Carvill, Gemma L., Gardella, Elena, Kluger, Gerhard, Schmiedel, Gudrun, Barisic, Nina, Depienne, Christel, Brilstra, Eva, Mang, Yuan, Nielsen, Jens Erik Klint, Kirkpatrick, Martin, Goudie, David, Goldman, Rebecca, Jähn, Johanna A., Jepsen, Birgit, Gill, Deepak, Döcker, Miriam, Biskup, Saskia, Mcmahon, Jacinta M., Koeleman, Bobby, Harris, Mandy, Braun, Kees, De Kovel, Carolien G. F., Marini, Carla, Specchio, Nicola, Djémié, Tania, Weckhuysen, Sarah, Tommerup, Niels, Troncoso, Monica, Troncoso, Ledia, Bevot, Andrea, Wolff, Markus, Hjalgrim, Helle, Guerrini, Renzo, Zara, Federico, Scheffer, Ingrid E., Mefford, Heather C., Møller, Rikke S., and EuroEPINOMICS RES Consortium CRP

Subjects
Male, Pediatrics, medicine.medical_specialty, Internationality, Ataxia, Movement disorders, Adolescent, Encephalopathy, Article, Epilepsy, medicine, Humans, Child, Preschool, Dystonia, Brain Diseases, phenotyp, SCN8A, encephalopathy, business.industry, Seizure types, Infant, Electroencephalography, medicine.disease, Hypotonia, Epileptic spasms, Phenotype, NAV1.6 Voltage-Gated Sodium Channel, Child, Preschool, Mutation, Female, Follow-Up Studies, Neurology (clinical), Human medicine, medicine.symptom, business, Neuroscience
Abstract

OBJECTIVE: SCN8A encodes the sodium channel voltage-gated α8-subunit (Nav1.6). SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. We aimed to delineate the phenotype associated with SCN8A mutations.METHODS: We used high-throughput sequence analysis of the SCN8A gene in 683 patients with a range of epileptic encephalopathies. In addition, we ascertained cases with SCN8A mutations from other centers. A detailed clinical history was obtained together with a review of EEG and imaging data.RESULTS: Seventeen patients with de novo heterozygous mutations of SCN8A were studied. Seizure onset occurred at a mean age of 5 months (range: 1 day to 18 months); in general, seizures were not triggered by fever. Fifteen of 17 patients had multiple seizure types including focal, tonic, clonic, myoclonic and absence seizures, and epileptic spasms; seizures were refractory to antiepileptic therapy. Development was normal in 12 patients and slowed after seizure onset, often with regression; 5 patients had delayed development from birth. All patients developed intellectual disability, ranging from mild to severe. Motor manifestations were prominent including hypotonia, dystonia, hyperreflexia, and ataxia. EEG findings comprised moderate to severe background slowing with focal or multifocal epileptiform discharges.CONCLUSION: SCN8A encephalopathy presents in infancy with multiple seizure types including focal seizures and spasms in some cases. Outcome is often poor and includes hypotonia and movement disorders. The majority of mutations arise de novo, although we observed a single case of somatic mosaicism in an unaffected parent.

Published
2015

9. Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

Author

Allen, Andrew S., Berkovic, Samuel F., Bridgers, Joshua, Cossette, Patrick, Dlugos, Dennis, Epstein, Michael P., Glauser, Tracy, Goldstein, David B., Heinzen, Erin L., Jiang, Yu, Johnson, Michael R., Kuzniecky, Ruben, Lowenstein, Daniel H., Marson, Anthony G., Mefford, Heather C., O'Brien, Terence J., Ottman, Ruth, Petrou, Steven, Petrovski, Slavé, Poduri, Annapurna, Ren, Zhong, Scheffer, Ingrid E., Sherr, Elliott, Wang, Quanli, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna A., Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Epi4K Consortium, Epilepsy Phenome Genome Project, and EuroEPINOMICS-RES Consortium

Subjects
Multicenter Study, Genetics, Journal Article, Genetics(clinical)
Abstract

The classic epileptic encephalopathies, including infantile spasms (IS) and Lennox-Gastaut syndrome (LGS), are severe seizure disorders that usually arise sporadically. De novo variants in genes mainly encoding ion channel and synaptic proteins have been found to account for over 15% of patients with IS or LGS. The contribution of autosomal recessive genetic variation, however, is less well understood. We implemented a rare variant transmission disequilibrium test (TDT) to search for autosomal recessive epileptic encephalopathy genes in a cohort of 320 outbred patient-parent trios that were generally prescreened for rare metabolic disorders. In the current sample, our rare variant transmission disequilibrium test did not identify individual genes with significantly distorted transmission over expectation after correcting for the multiple tests. While the rare variant transmission disequilibrium test did not find evidence of a role for individual autosomal recessive genes, our current sample is insufficiently powered to assess the overall role of autosomal recessive genotypes in an outbred epileptic encephalopathy population.

Published
2017

10. Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects

Author

Marini, Carla, Hardies, Katia, Pisano, Tiziana, May, Patrick, Weckhuysen, Sarah, Cellini, Elena, Suls, Arvid, Mei, Davide, Balling, Rudi, Jonghe, Peter D., Helbig, Ingo, Garozzo, Domenico, Guerrini, Renzo, Afawi, Zaid, Barišić, Nina, Baulac, Stéphanie, Brilstra, Eva H., Caglayan, Hande, Dana, Craiu, Hageman, Gerard, Helle, Hjalgrim, Jähn, Johanna, Klein, Karl Martin, Leguern, Eric, Lemke, Johannes R., Møller, Rikke S., Muhle, Hiltrud, Rosenow, Felix, Serratosa, Jose, Schelhaas, Jurgen H., Sterbova, Katalin, von Spiczak, Sarah, Szczepanik, Elzbieta, Yis, Uluc, Lerche, Holger, Striano, Pasquale, Weber, Yvonne, and Zara, Federico

Subjects
epileptic encephalopathy, Journal Article, genetics, suppression burst, skeletal abnormalities, infantile spasms
Published
2017

11. Erratum : De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

Author

Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna A., Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Pendziwiat, Manuela, Robbiano, Angela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay M., Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weber, Yvonne G., Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amrom, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Poduri, Annapurna, Sadleir, Lynette G., Scheffer, Ingrid E., Shellhaas, Renée A, Sherr, Elliott, Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P. G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R., Allen, Andrew S., Cossette, Patrick, Delanty, Norman, Eichler, Evan E., Goldstein, David B., Han, Yujun, Heinzen, Erin L., Johnson, Michael R., Marson, Anthony G., Mefford, Heather C., Nieh, Sahar Esmaeeli, O'Brien, Terence J., Petrou, Stephen, Petrovski, Slavé, and Ruzzo, Elizabeth K.

Subjects
Genetics, Genetics(clinical)
Abstract

(The American Journal of Human Genetics 95, 360–370; October 2, 2014) In the list of consortium members for the Epilepsy Phenome/Genome Project, member Dina Amrom's name was misspelled as Amron. The authors regret the error.

Published
2017

12. Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

Author

Vögtle, F.-Nora, primary, Brändl, Björn, additional, Larson, Austin, additional, Pendziwiat, Manuela, additional, Friederich, Marisa W., additional, White, Susan M., additional, Basinger, Alice, additional, Kücükköse, Cansu, additional, Muhle, Hiltrud, additional, Jähn, Johanna A., additional, Keminer, Oliver, additional, Helbig, Katherine L., additional, Delto, Carolyn F., additional, Myketin, Lisa, additional, Mossmann, Dirk, additional, Burger, Nils, additional, Miyake, Noriko, additional, Burnett, Audrey, additional, van Baalen, Andreas, additional, Lovell, Mark A., additional, Matsumoto, Naomichi, additional, Walsh, Maie, additional, Yu, Hung-Chun, additional, Shinde, Deepali N., additional, Stephani, Ulrich, additional, Van Hove, Johan L.K., additional, Müller, Franz-Josef, additional, and Helbig, Ingo, additional

Published
2018
Full Text
View/download PDF

13. Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

Author

Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group) [research center], Allen, Andrew S., Berkovic, Samuel F., Bridgers, Joshua, Cossette, Patrick, Dlugos, Dennis, Epstein, Michael P., Glauser, Tracy, Goldstein, David B., Heinzen, Erin L., Jiang, Yu, Johnson, Michael R., Kuzniecky, Ruben, Lowenstein, Daniel H., Marson, Anthony G., Mefford, Heather C., O'Brien, Terence J., Ottman, Ruth, Petrou, Steven, Petrovski, Slavé, Poduri, Annapurna, Ren, Zhong, Scheffer, Ingrid E., Sherr, Elliott, Wang, Quanli, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weber, Yvonne, Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K., Amrom, Dina, Andermann, Eva, Andermann, Frederick, Bautista, Jocelyn F., Bluvstein, Judith, Cascino, Gregory D., Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Fiol, Miguel E., Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Kossoff, Eric H., Kuperman, Rachel, McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Shellhaas, Renée A., Sirven, Joseph, Smith, Michael C., Sullivan, Joseph, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P. G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R., Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group) [research center], Allen, Andrew S., Berkovic, Samuel F., Bridgers, Joshua, Cossette, Patrick, Dlugos, Dennis, Epstein, Michael P., Glauser, Tracy, Goldstein, David B., Heinzen, Erin L., Jiang, Yu, Johnson, Michael R., Kuzniecky, Ruben, Lowenstein, Daniel H., Marson, Anthony G., Mefford, Heather C., O'Brien, Terence J., Ottman, Ruth, Petrou, Steven, Petrovski, Slavé, Poduri, Annapurna, Ren, Zhong, Scheffer, Ingrid E., Sherr, Elliott, Wang, Quanli, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weber, Yvonne, Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K., Amrom, Dina, Andermann, Eva, Andermann, Frederick, Bautista, Jocelyn F., Bluvstein, Judith, Cascino, Gregory D., Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Fiol, Miguel E., Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Kossoff, Eric H., Kuperman, Rachel, McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Shellhaas, Renée A., Sirven, Joseph, Smith, Michael C., Sullivan, Joseph, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P. G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess-Walsh, Peter, and Winawer, Melodie R.

Abstract

The classic epileptic encephalopathies, including infantile spasms (IS) and Lennox–Gastaut syndrome (LGS), are severe seizure disorders that usually arise sporadically. De novo variants in genes mainly encoding ion channel and synaptic proteins have been found to account for over 15% of patients with IS or LGS. The contribution of autosomal recessive genetic variation, however, is less well understood. We implemented a rare variant transmission disequilibrium test (TDT) to search for autosomal recessive epileptic encephalopathy genes in a cohort of 320 outbred patient–parent trios that were generally prescreened for rare metabolic disorders. In the current sample, our rare variant transmission disequilibrium test did not identify individual genes with significantly distorted transmission over expectation after correcting for the multiple tests. While the rare variant transmission disequilibrium test did not find evidence of a role for individual autosomal recessive genes, our current sample is insufficiently powered to assess the overall role of autosomal recessive genotypes in an outbred epileptic encephalopathy population.

Published
2017

14. De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.

Author

Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group) [research center], Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, Jonghe, Peter De, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Pendziwiat, Manuela, Robbiano, Angela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, Spiczak, Sarah Von, Weber, Yvonne, Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amrom, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Poduri, Annapurna, Sadleir, Lynette, Scheffer, Ingrid E., Shellhaas, Renée A., Sherr, Elliott, Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P. G., Allmen, Gretchen K. Von, Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R., Allen, Andrew S., Cossette, Patrick, Delanty, Norman, Eichler, Evan E., Goldstein, David B., Han, Yujun, Heinzen, Erin L., Johnson, Michael R., Marson, Anthony G., Mefford, Heather C., Nieh, Sahar Esmaeeli, O’Brien, Terence J., Petrou, Stephen, Petrovski, Slavé, Ruzzo, Elizabeth K., Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group) [research center], Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, Jonghe, Peter De, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Pendziwiat, Manuela, Robbiano, Angela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, Spiczak, Sarah Von, Weber, Yvonne, Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amrom, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Poduri, Annapurna, Sadleir, Lynette, Scheffer, Ingrid E., Shellhaas, Renée A., Sherr, Elliott, Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P. G., Allmen, Gretchen K. Von, Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R., Allen, Andrew S., Cossette, Patrick, Delanty, Norman, Eichler, Evan E., Goldstein, David B., Han, Yujun, Heinzen, Erin L., Johnson, Michael R., Marson, Anthony G., Mefford, Heather C., Nieh, Sahar Esmaeeli, O’Brien, Terence J., Petrou, Stephen, Petrovski, Slavé, and Ruzzo, Elizabeth K.

Abstract

In the list of consortium members for the Epilepsy Phenome/Genome Project, member Dina Amrom’s name was misspelled as Amron. The authors regret the error.

Published
2017

15. Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

Author

UMC Utrecht, Genetica Groep Koeleman, Circulatory Health, Brain, Child Health, Allen, Andrew S., Berkovic, Samuel F., Bridgers, Joshua, Cossette, Patrick, Dlugos, Dennis, Epstein, Michael P., Glauser, Tracy, Goldstein, David B., Heinzen, Erin L., Jiang, Yu, Johnson, Michael R., Kuzniecky, Ruben, Lowenstein, Daniel H., Marson, Anthony G., Mefford, Heather C., O'Brien, Terence J., Ottman, Ruth, Petrou, Steven, Petrovski, Slavé, Poduri, Annapurna, Ren, Zhong, Scheffer, Ingrid E., Sherr, Elliott, Wang, Quanli, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna A., Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Epi4K Consortium, Epilepsy Phenome Genome Project, EuroEPINOMICS RES Consortium, UMC Utrecht, Genetica Groep Koeleman, Circulatory Health, Brain, Child Health, Allen, Andrew S., Berkovic, Samuel F., Bridgers, Joshua, Cossette, Patrick, Dlugos, Dennis, Epstein, Michael P., Glauser, Tracy, Goldstein, David B., Heinzen, Erin L., Jiang, Yu, Johnson, Michael R., Kuzniecky, Ruben, Lowenstein, Daniel H., Marson, Anthony G., Mefford, Heather C., O'Brien, Terence J., Ottman, Ruth, Petrou, Steven, Petrovski, Slavé, Poduri, Annapurna, Ren, Zhong, Scheffer, Ingrid E., Sherr, Elliott, Wang, Quanli, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna A., Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Epi4K Consortium, Epilepsy Phenome Genome Project, and EuroEPINOMICS RES Consortium

Published
2017

16. Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

Author

Genetica Groep Koeleman, Circulatory Health, Brain, Child Health, Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna A., Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Pendziwiat, Manuela, Robbiano, Angela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay M., Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weber, Yvonne G., Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amrom, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Poduri, Annapurna, Sadleir, Lynette G., Scheffer, Ingrid E., Shellhaas, Renée A, Sherr, Elliott, Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P. G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R., Allen, Andrew S., Cossette, Patrick, Delanty, Norman, Eichler, Evan E., Goldstein, David B., Han, Yujun, Heinzen, Erin L., Johnson, Michael R., Marson, Anthony G., Mefford, Heather C., Nieh, Sahar Esmaeeli, O'Brien, Terence J., Petrou, Stephen, Petrovski, Slavé, Ruzzo, Elizabeth K., Genetica Groep Koeleman, Circulatory Health, Brain, Child Health, Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna A., Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Pendziwiat, Manuela, Robbiano, Angela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay M., Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weber, Yvonne G., Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amrom, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Poduri, Annapurna, Sadleir, Lynette G., Scheffer, Ingrid E., Shellhaas, Renée A, Sherr, Elliott, Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P. G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R., Allen, Andrew S., Cossette, Patrick, Delanty, Norman, Eichler, Evan E., Goldstein, David B., Han, Yujun, Heinzen, Erin L., Johnson, Michael R., Marson, Anthony G., Mefford, Heather C., Nieh, Sahar Esmaeeli, O'Brien, Terence J., Petrou, Stephen, Petrovski, Slavé, and Ruzzo, Elizabeth K.

Published
2017

17. Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects

Author

Genetica Klinische Genetica, Brain, UMC Utrecht, Marini, Carla, Hardies, Katia, Pisano, Tiziana, May, Patrick, Weckhuysen, Sarah, Cellini, Elena, Suls, Arvid, Mei, Davide, Balling, Rudi, Jonghe, Peter D., Helbig, Ingo, Garozzo, Domenico, Guerrini, Renzo, Afawi, Zaid, Barišić, Nina, Baulac, Stéphanie, Brilstra, Eva H., Caglayan, Hande, Dana, Craiu, Hageman, Gerard, Helle, Hjalgrim, Jähn, Johanna, Klein, Karl Martin, Leguern, Eric, Lemke, Johannes R., Møller, Rikke S., Muhle, Hiltrud, Rosenow, Felix, Serratosa, Jose, Schelhaas, Jurgen H., Sterbova, Katalin, von Spiczak, Sarah, Szczepanik, Elzbieta, Yis, Uluc, Lerche, Holger, Striano, Pasquale, Weber, Yvonne, Zara, Federico, Genetica Klinische Genetica, Brain, UMC Utrecht, Marini, Carla, Hardies, Katia, Pisano, Tiziana, May, Patrick, Weckhuysen, Sarah, Cellini, Elena, Suls, Arvid, Mei, Davide, Balling, Rudi, Jonghe, Peter D., Helbig, Ingo, Garozzo, Domenico, Guerrini, Renzo, Afawi, Zaid, Barišić, Nina, Baulac, Stéphanie, Brilstra, Eva H., Caglayan, Hande, Dana, Craiu, Hageman, Gerard, Helle, Hjalgrim, Jähn, Johanna, Klein, Karl Martin, Leguern, Eric, Lemke, Johannes R., Møller, Rikke S., Muhle, Hiltrud, Rosenow, Felix, Serratosa, Jose, Schelhaas, Jurgen H., Sterbova, Katalin, von Spiczak, Sarah, Szczepanik, Elzbieta, Yis, Uluc, Lerche, Holger, Striano, Pasquale, Weber, Yvonne, and Zara, Federico

Published
2017

18. Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects

Author

Muhle, Hiltrud, Sterbova, Katalin, von Spiczak, Sarah, Szczepanik, Elzbieta, Yis, Uluc, Baulac, Stéphanie, Barišić, Nina, Lerche, Holger, Striano, Pasquale, Weber, Yvonne, Zara, Federico, Garozzo, Domenico, Jonghe, Peter D., Balling, Rudi, Mei, Davide, Cellini, Elena, Klein, Karl Martin, Suls, Arvid, Jähn, Johanna, Helle, Hjalgrim, Marini, Carla, Hardies, Katia, Pisano, Tiziana, May, Patrick, Weckhuysen, Sarah, Hageman, Gerard, Dana, Craiu, Caglayan, Hande, Schelhaas, Jurgen H., Brilstra, Eva H., Serratosa, Jose, Rosenow, Felix, Afawi, Zaid, Guerrini, Renzo, Helbig, Ingo, Møller, Rikke S., Lemke, Johannes R, and Leguern, Eric

Subjects
Arthrogryposis, Male, Heterozygote, Glycosylation, Siblings, Gene Expression, Electroencephalography, skeletal abnormalities, Quadriplegia, Bone and Bones, epileptic encephalopathy, genetics, infantile spasms, suppression burst, Intellectual Disability, Mutation, Nucleotide Transport Proteins, Microcephaly, Humans, Female, Child, Spasms, Infantile
Abstract

© 2017 Wiley Periodicals, Inc.We describe the clinical and whole genome sequencing (WGS) study of a non-consanguineous Italian family in which two siblings, a boy and a girl, manifesting a severe epileptic encephalopathy (EE) with skeletal abnormalities, carried novel SLC35A3 compound heterozygous mutations. Both siblings exhibited infantile spasms, associated with focal, and tonic vibratory seizures from early infancy. EEG recordings showed a suppression-burst (SB) pattern and multifocal paroxysmal activity in both. In addition both had quadriplegia, acquired microcephaly, and severe intellectual disability. General examination showed distal arthrogryposis predominant in the hands in both siblings and severe left dorso-lumbar convex scoliosis in one. WGS of the siblings-parents quartet identified novel compound heterozygous mutations in SLC35A3 in both children. SLC35A3 encodes the major Golgi uridine diphosphate N-acetylglucosamine transporter. With this study, we add SLC35A3 to the gene list of epilepsies. Neurological symptoms and skeletal abnormalities might result from impaired glycosylation of proteins involved in normal development and function of the central nervous system and skeletal apparatus.

Published
2016

19. Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

Author

Santiago-Sim, Teresa, primary, Burrage, Lindsay C., additional, Ebstein, Frédéric, additional, Tokita, Mari J., additional, Miller, Marcus, additional, Bi, Weimin, additional, Braxton, Alicia A., additional, Rosenfeld, Jill A., additional, Shahrour, Maher, additional, Lehmann, Andrea, additional, Cogné, Benjamin, additional, Küry, Sébastien, additional, Besnard, Thomas, additional, Isidor, Bertrand, additional, Bézieau, Stéphane, additional, Hazart, Isabelle, additional, Nagakura, Honey, additional, Immken, LaDonna L., additional, Littlejohn, Rebecca O., additional, Roeder, Elizabeth, additional, Kara, Bulent, additional, Hardies, Katia, additional, Weckhuysen, Sarah, additional, May, Patrick, additional, Lemke, Johannes R., additional, Elpeleg, Orly, additional, Abu-Libdeh, Bassam, additional, James, Kiely N., additional, Silhavy, Jennifer L., additional, Issa, Mahmoud Y., additional, Zaki, Maha S., additional, Gleeson, Joseph G., additional, Seavitt, John R., additional, Dickinson, Mary E., additional, Ljungberg, M. Cecilia, additional, Wells, Sara, additional, Johnson, Sara J., additional, Teboul, Lydia, additional, Eng, Christine M., additional, Yang, Yaping, additional, Kloetzel, Peter-Michael, additional, Heaney, Jason D., additional, Walkiewicz, Magdalena A., additional, Afawi, Zaid, additional, Balling, Rudi, additional, Barisic, Nina, additional, Baulac, Stéphanie, additional, Craiu, Dana, additional, De Jonghe, Peter, additional, Guerrero-Lopez, Rosa, additional, Guerrini, Renzo, additional, Helbig, Ingo, additional, Hjalgrim, Helle, additional, Jähn, Johanna, additional, Klein, Karl Martin, additional, Leguern, Eric, additional, Lerche, Holger, additional, Marini, Carla, additional, Muhle, Hiltrud, additional, Rosenow, Felix, additional, Serratosa, José, additional, Sterbová, Katalin, additional, Suls, Arvid, additional, Moller, Rikke S., additional, Striano, Pasquale, additional, Weber, Yvonne, additional, and Zara, Federico, additional

Published
2017
Full Text
View/download PDF

20. De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Author

Appenzeller, Silke, primary, Balling, Rudi, additional, Barisic, Nina, additional, Baulac, Stéphanie, additional, Caglayan, Hande, additional, Craiu, Dana, additional, De Jonghe, Peter, additional, Depienne, Christel, additional, Dimova, Petia, additional, Djémié, Tania, additional, Gormley, Padhraig, additional, Guerrini, Renzo, additional, Helbig, Ingo, additional, Hjalgrim, Helle, additional, Hoffman-Zacharska, Dorota, additional, Jähn, Johanna, additional, Klein, Karl Martin, additional, Koeleman, Bobby, additional, Komarek, Vladimir, additional, Krause, Roland, additional, Kuhlenbäumer, Gregor, additional, Leguern, Eric, additional, Lehesjoki, Anna-Elina, additional, Lemke, Johannes R., additional, Lerche, Holger, additional, Linnankivi, Tarja, additional, Marini, Carla, additional, May, Patrick, additional, Møller, Rikke S., additional, Muhle, Hiltrud, additional, Pal, Deb, additional, Palotie, Aarno, additional, Pendziwiat, Manuela, additional, Robbiano, Angela, additional, Roelens, Filip, additional, Rosenow, Felix, additional, Selmer, Kaja, additional, Serratosa, Jose M., additional, Sisodiya, Sanjay, additional, Stephani, Ulrich, additional, Sterbova, Katalin, additional, Striano, Pasquale, additional, Suls, Arvid, additional, Talvik, Tiina, additional, von Spiczak, Sarah, additional, Weber, Yvonne, additional, Weckhuysen, Sarah, additional, Zara, Federico, additional, Abou-Khalil, Bassel, additional, Alldredge, Brian K., additional, Andermann, Eva, additional, Andermann, Frederick, additional, Amrom, Dina, additional, Bautista, Jocelyn F., additional, Berkovic, Samuel F., additional, Bluvstein, Judith, additional, Boro, Alex, additional, Cascino, Gregory, additional, Consalvo, Damian, additional, Crumrine, Patricia, additional, Devinsky, Orrin, additional, Dlugos, Dennis, additional, Epstein, Michael P., additional, Fiol, Miguel, additional, Fountain, Nathan B., additional, French, Jacqueline, additional, Friedman, Daniel, additional, Geller, Eric B., additional, Glauser, Tracy, additional, Glynn, Simon, additional, Haas, Kevin, additional, Haut, Sheryl R., additional, Hayward, Jean, additional, Helmers, Sandra L., additional, Joshi, Sucheta, additional, Kanner, Andres, additional, Kirsch, Heidi E., additional, Knowlton, Robert C., additional, Kossoff, Eric H., additional, Kuperman, Rachel, additional, Kuzniecky, Ruben, additional, Lowenstein, Daniel H., additional, McGuire, Shannon M., additional, Motika, Paul V., additional, Novotny, Edward J., additional, Ottman, Ruth, additional, Paolicchi, Juliann M., additional, Parent, Jack, additional, Park, Kristen, additional, Poduri, Annapurna, additional, Sadleir, Lynette, additional, Scheffer, Ingrid E., additional, Shellhaas, Renée A., additional, Sherr, Elliott, additional, Shih, Jerry J., additional, Singh, Rani, additional, Sirven, Joseph, additional, Smith, Michael C., additional, Sullivan, Joe, additional, Thio, Liu Lin, additional, Venkat, Anu, additional, Vining, Eileen P.G., additional, Von Allmen, Gretchen K., additional, Weisenberg, Judith L., additional, Widdess-Walsh, Peter, additional, Winawer, Melodie R., additional, Allen, Andrew S., additional, Cossette, Patrick, additional, Delanty, Norman, additional, Eichler, Evan E., additional, Goldstein, David B., additional, Han, Yujun, additional, Heinzen, Erin L., additional, Johnson, Michael R., additional, Marson, Anthony G., additional, Mefford, Heather C., additional, Nieh, Sahar Esmaeeli, additional, O’Brien, Terence J., additional, Petrou, Stephen, additional, Petrovski, Slavé, additional, and Ruzzo, Elizabeth K., additional

Published
2017
Full Text
View/download PDF

21. The Human Phenotype Ontology in 2017

Author

Köhler, Sebastian, Vasilevsky, Nicole A., Engelstad, Mark, Foster, Erin, McMurry, Julie, Aymé, Ségolène, Baynam, Gareth, Bello, Susan M., Boerkoel, Cornelius F., Boycott, Kym M., Brudno, Michael, Buske, Orion J., Chinnery, Patrick F., Cipriani, Valentina, Connell, Laureen E., Dawkins, Hugh J. S., DeMare, Laura E., Devereau, Andrew D., de Vries, Bert B. A., Firth, Helen V., Freson, Kathleen, Greene, Daniel, Hamosh, Ada, Helbig, Ingo, Hum, Courtney, Jähn, Johanna A., James, Roger, Krause, Roland, Laulederkind, Stanley J. F., Lochmüller, Hanns, Lyon, Gholson J., Ogishima, Soichi, Olry, Annie, Ouwehand, Willem H., Pontikos, Nikolas, Rath, Ana, Schaefer, Franz, Scott, Richard H., Segal, Michael, Sergouniotis, Panagiotis I., Sever, Richard, Smith, Cynthia L., Straub, Volker, Thompson, Rachel, Turner, Catherine, Turro, Ernest, Veltman, Marijcke W. M., Vulliamy, Tom, Yu, Jing, von Ziegenweidt, Julie, Zankl, Andreas, Züchner, Stephan, Zemojtel, Tomasz, Jacobsen, Julius O. B., Groza, Tudor, Smedley, Damian, Mungall, Christopher J., Haendel, Melissa, Robinson, Peter N., Köhler, Sebastian, Vasilevsky, Nicole A., Engelstad, Mark, Foster, Erin, McMurry, Julie, Aymé, Ségolène, Baynam, Gareth, Bello, Susan M., Boerkoel, Cornelius F., Boycott, Kym M., Brudno, Michael, Buske, Orion J., Chinnery, Patrick F., Cipriani, Valentina, Connell, Laureen E., Dawkins, Hugh J. S., DeMare, Laura E., Devereau, Andrew D., de Vries, Bert B. A., Firth, Helen V., Freson, Kathleen, Greene, Daniel, Hamosh, Ada, Helbig, Ingo, Hum, Courtney, Jähn, Johanna A., James, Roger, Krause, Roland, Laulederkind, Stanley J. F., Lochmüller, Hanns, Lyon, Gholson J., Ogishima, Soichi, Olry, Annie, Ouwehand, Willem H., Pontikos, Nikolas, Rath, Ana, Schaefer, Franz, Scott, Richard H., Segal, Michael, Sergouniotis, Panagiotis I., Sever, Richard, Smith, Cynthia L., Straub, Volker, Thompson, Rachel, Turner, Catherine, Turro, Ernest, Veltman, Marijcke W. M., Vulliamy, Tom, Yu, Jing, von Ziegenweidt, Julie, Zankl, Andreas, Züchner, Stephan, Zemojtel, Tomasz, Jacobsen, Julius O. B., Groza, Tudor, Smedley, Damian, Mungall, Christopher J., Haendel, Melissa, and Robinson, Peter N.

Abstract

Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.human-phenotype-ontology.org) project are the phenotype vocabulary, disease-phenotype annotations and the algorithms that operate on these. These components are being used for computational deep phenotyping and precision medicine as well as integration of clinical data into translational research. The HPO is being increasingly adopted as a standard for phenotypic abnormalities by diverse groups such as international rare disease organizations, registries, clinical labs, biomedical resources, and clinical software tools and will thereby contribute toward nascent efforts at global data exchange for identifying disease etiologies. This update article reviews the progress of the HPO project since the debut Nucleic Acids Research database article in 2014, including specific areas of expansion such as common (complex) disease, new algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition of patient-friendly terminology.

Published
2016

22. The Human Phenotype Ontology in 2017

Author

Köhler, Sebastian, primary, Vasilevsky, Nicole A., additional, Engelstad, Mark, additional, Foster, Erin, additional, McMurry, Julie, additional, Aymé, Ségolène, additional, Baynam, Gareth, additional, Bello, Susan M., additional, Boerkoel, Cornelius F., additional, Boycott, Kym M., additional, Brudno, Michael, additional, Buske, Orion J., additional, Chinnery, Patrick F., additional, Cipriani, Valentina, additional, Connell, Laureen E., additional, Dawkins, Hugh J.S., additional, DeMare, Laura E., additional, Devereau, Andrew D., additional, de Vries, Bert B.A., additional, Firth, Helen V., additional, Freson, Kathleen, additional, Greene, Daniel, additional, Hamosh, Ada, additional, Helbig, Ingo, additional, Hum, Courtney, additional, Jähn, Johanna A., additional, James, Roger, additional, Krause, Roland, additional, F. Laulederkind, Stanley J., additional, Lochmüller, Hanns, additional, Lyon, Gholson J., additional, Ogishima, Soichi, additional, Olry, Annie, additional, Ouwehand, Willem H., additional, Pontikos, Nikolas, additional, Rath, Ana, additional, Schaefer, Franz, additional, Scott, Richard H., additional, Segal, Michael, additional, Sergouniotis, Panagiotis I., additional, Sever, Richard, additional, Smith, Cynthia L., additional, Straub, Volker, additional, Thompson, Rachel, additional, Turner, Catherine, additional, Turro, Ernest, additional, Veltman, Marijcke W.M., additional, Vulliamy, Tom, additional, Yu, Jing, additional, von Ziegenweidt, Julie, additional, Zankl, Andreas, additional, Züchner, Stephan, additional, Zemojtel, Tomasz, additional, Jacobsen, Julius O.B., additional, Groza, Tudor, additional, Smedley, Damian, additional, Mungall, Christopher J., additional, Haendel, Melissa, additional, and Robinson, Peter N., additional

Published
2016
Full Text
View/download PDF

23. CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

Author

Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group) [research center], Thomas, Rhys H., Zhang, Lin Mei, Carvill, Gemma L., Archer, John S., Heavin, Sinéad B., Mandelstam, Simone A., Craiu, Dana, Berkovic, Samuel F., Gill, Deepak S., Mefford, Heather C., Scheffer, Ingrid E., Paalotie, Aarno, Lehesjoki, Anna-Elina, Koeleman, Bobby, Marini, Carla, Depienne, Christel, Pal, Deb, Hoffman-Zacharska, Dorota, Leguern, Eric, Zara, Federico, Rosenow, Felix, Caglayan, Hande, Hjalgrim, Helle, Muhle, Hiltrud, Lerche, Holger, Helbig, Ingo, Jähn, Johanna, Lemke, Johannes, Serratosa, Jose M., Selmer, Katja, Klein, Karl Martin, Sterbova, Katalin, Pendziwiat, Manuela, Barisic, Nina, Gormley, Padhraig, Striano, Pasquale, May, Patrick, De Jonghe, Peter, Guerrini, Renzo, Møller, Rikke S., Krause, Roland, Balling, Rudi, Sisodiya, Sanjay, von Spiczak, Sarah, Weckhuysen, Sarah, Baulac, Stéphanie, Suls, Arvid, Djemie, Tania, Stephani, Ulrich, Komarek, Vladimir, Weber, Yvonne, Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group) [research center], Thomas, Rhys H., Zhang, Lin Mei, Carvill, Gemma L., Archer, John S., Heavin, Sinéad B., Mandelstam, Simone A., Craiu, Dana, Berkovic, Samuel F., Gill, Deepak S., Mefford, Heather C., Scheffer, Ingrid E., Paalotie, Aarno, Lehesjoki, Anna-Elina, Koeleman, Bobby, Marini, Carla, Depienne, Christel, Pal, Deb, Hoffman-Zacharska, Dorota, Leguern, Eric, Zara, Federico, Rosenow, Felix, Caglayan, Hande, Hjalgrim, Helle, Muhle, Hiltrud, Lerche, Holger, Helbig, Ingo, Jähn, Johanna, Lemke, Johannes, Serratosa, Jose M., Selmer, Katja, Klein, Karl Martin, Sterbova, Katalin, Pendziwiat, Manuela, Barisic, Nina, Gormley, Padhraig, Striano, Pasquale, May, Patrick, De Jonghe, Peter, Guerrini, Renzo, Møller, Rikke S., Krause, Roland, Balling, Rudi, Sisodiya, Sanjay, von Spiczak, Sarah, Weckhuysen, Sarah, Baulac, Stéphanie, Suls, Arvid, Djemie, Tania, Stephani, Ulrich, Komarek, Vladimir, and Weber, Yvonne

Abstract

Objective: To delineate the phenotype of early childhood epileptic encephalopathy due to de novo mutations of CHD2, which encodes the chromodomain helicase DNA binding protein 2. Methods: We analyzed the medical history, MRI, and video-EEG recordings of 9 individuals with de novo CHD2 mutations and one with a de novo 15q26 deletion encompassing CHD2. Results: Seizures began at a mean of 26 months (12–42) with myoclonic seizures in all 10 cases. Seven exhibited exquisite clinical photosensitivity; 6 self-induced with the television. Absence seizures occurred in 9 patients including typical (4), atypical (2), and absence seizures with eyelid myoclonias (4). Generalized tonic-clonic seizures occurred in 9 of 10 cases with a mean onset of 5.8 years. Convulsive and nonconvulsive status epilepticus were later features (6/10, mean onset 9 years). Tonic (40%) and atonic (30%) seizures also occurred. In 3 cases, an unusual seizure type, the atonic-myoclonic-absence was captured on video. A phenotypic spectrum was identified with 7 cases having moderate to severe intellectual disability and refractory seizures including tonic attacks. Their mean age at onset was 23 months. Three cases had a later age at onset (34 months) with relative preservation of intellect and an initial response to antiepileptic medication. Conclusion: The phenotypic spectrum of CHD2 encephalopathy has distinctive features of myoclonic epilepsy, marked clinical photosensitivity, atonic-myoclonic-absence, and intellectual disability ranging from mild to severe. Recognition of this genetic entity will permit earlier diagnosis and enable the development of targeted therapies.

Published
2015

25. CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

Author

Thomas, Rhys H., primary, Zhang, Lin Mei, additional, Carvill, Gemma L., additional, Archer, John S., additional, Heavin, Sinéad B., additional, Mandelstam, Simone A., additional, Craiu, Dana, additional, Berkovic, Samuel F., additional, Gill, Deepak S., additional, Mefford, Heather C., additional, Scheffer, Ingrid E., additional, Paalotie, Aarno, additional, Lehesjoki, Anna-Elina, additional, Koeleman, Bobby, additional, Marini, Carla, additional, Depienne, Christel, additional, Pal, Deb, additional, Hoffman-Zacharska, Dorota, additional, Leguern, Eric, additional, Zara, Federico, additional, Rosenow, Felix, additional, Caglayan, Hande, additional, Hjalgrim, Helle, additional, Muhle, Hiltrud, additional, Lerche, Holger, additional, Helbig, Ingo, additional, Jähn, Johanna, additional, Lemke, Johannes, additional, Serratosa, Jose M, additional, Selmer, Kaja, additional, Klein, Karl Martin, additional, Sterbova, Katalin, additional, Pendziwiat, Manuela, additional, Barisic, Nina, additional, Gormley, Padhraig, additional, Striano, Pasquale, additional, May, Patrick, additional, De Jonghe, Peter, additional, Guerrini, Renzo, additional, Møller, Rikke, additional, Krause, Roland, additional, Balling, Rudi, additional, Sisodiya, Sanjay, additional, von Spiczak, Sarah, additional, Weckhuysen, Sarah, additional, Baulac, Stéphanie, additional, Suls, Arvid, additional, Djemie, Tania, additional, Talvik, Tiina, additional, Stephani, Ulrich, additional, Komarek, Vladimir, additional, and Weber, Yvonne, additional

Published
2015
Full Text
View/download PDF

26. De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Author

May, Patrick [collaborator], Balling, Rudi [collaborator], Barisic, Nina [collaborator], Baulac, Stéphanie [collaborator], Caglayan, Hande S. [collaborator], Craiu, Dana C. [collaborator], De Jonghe, Peter [collaborator], Depienne, Christel [collaborator], Gormley, Padhraig [collaborator], Guerrini, Renzo [collaborator], Helbig, Ingo [collaborator], Hjalgrim, Helle [collaborator], Hoffman-Zacharska, Dorota [collaborator], Jähn, Johanna [collaborator], Klein, Karl Martin [collaborator], Koeleman, Bobby P. C. [collaborator], Komarek, Vladimir [collaborator], Krause, Roland [collaborator], LeGuern, Eric [collaborator], Lehesjoki, Anna-Elina [collaborator], Lemke, Johannes R. [collaborator], Lerche, Holger [collaborator], Marini, Carla [collaborator], Møller, Rikke S. [collaborator], Muhle, Hiltrud [collaborator], Palotie, Aarno [collaborator], Pal, Deb [collaborator], Rosenow, Felix [collaborator], Selmer, Kaja [collaborator], Serratosa, José M. [collaborator], Sisodiya, Sanjay [collaborator], Stephani, Ulrich [collaborator], Sterbova, Katalin [collaborator], Striano, Pasquale [collaborator], Suls, Arvid [collaborator], Talvik, Tiina [collaborator], von Spiczak, Sarah [collaborator], Weber, Yvonne [collaborator], Weckhuysen, Sarah [collaborator], Zara, Federico [collaborator], Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group) [research center], Nava, Caroline, Dalle, Carine, Rastetter, Agnès, Striano, Pasquale, de Kovel, Carolien G. F., Nabbout, Rima, Cancès, Claude, Ville, Dorothée, Brilstra, Eva H., Gobbi, Giuseppe, Raffo, Emmanuel, Bouteiller, Delphine, Marie, Yannick, Trouillard, Oriane, Robbiano, Angela, Keren, Boris, Agher, Dahbia, Roze, Emmanuel, Lesage, Suzanne, Nicolas, Aude, Brice, Alexis, Baulac, Michel, Vogt, Cornelia, El Hajj, Nady, Schneider, Eberhard, Suls, Arvid, Weckhuysen, Sarah, Gormley, Padhraig, Lehesjoki, Anna-Elina, De Jonghe, Peter, Helbig, Ingo, Baulac, Stephanie, Zara, Federico, Koeleman, Bobby P. C., Consortium, Euroepinomics R. E. S., Haaf, Thomas, LeGuern, Eric, Depienne, Christel, May, Patrick [collaborator], Balling, Rudi [collaborator], Barisic, Nina [collaborator], Baulac, Stéphanie [collaborator], Caglayan, Hande S. [collaborator], Craiu, Dana C. [collaborator], De Jonghe, Peter [collaborator], Depienne, Christel [collaborator], Gormley, Padhraig [collaborator], Guerrini, Renzo [collaborator], Helbig, Ingo [collaborator], Hjalgrim, Helle [collaborator], Hoffman-Zacharska, Dorota [collaborator], Jähn, Johanna [collaborator], Klein, Karl Martin [collaborator], Koeleman, Bobby P. C. [collaborator], Komarek, Vladimir [collaborator], Krause, Roland [collaborator], LeGuern, Eric [collaborator], Lehesjoki, Anna-Elina [collaborator], Lemke, Johannes R. [collaborator], Lerche, Holger [collaborator], Marini, Carla [collaborator], Møller, Rikke S. [collaborator], Muhle, Hiltrud [collaborator], Palotie, Aarno [collaborator], Pal, Deb [collaborator], Rosenow, Felix [collaborator], Selmer, Kaja [collaborator], Serratosa, José M. [collaborator], Sisodiya, Sanjay [collaborator], Stephani, Ulrich [collaborator], Sterbova, Katalin [collaborator], Striano, Pasquale [collaborator], Suls, Arvid [collaborator], Talvik, Tiina [collaborator], von Spiczak, Sarah [collaborator], Weber, Yvonne [collaborator], Weckhuysen, Sarah [collaborator], Zara, Federico [collaborator], Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group) [research center], Nava, Caroline, Dalle, Carine, Rastetter, Agnès, Striano, Pasquale, de Kovel, Carolien G. F., Nabbout, Rima, Cancès, Claude, Ville, Dorothée, Brilstra, Eva H., Gobbi, Giuseppe, Raffo, Emmanuel, Bouteiller, Delphine, Marie, Yannick, Trouillard, Oriane, Robbiano, Angela, Keren, Boris, Agher, Dahbia, Roze, Emmanuel, Lesage, Suzanne, Nicolas, Aude, Brice, Alexis, Baulac, Michel, Vogt, Cornelia, El Hajj, Nady, Schneider, Eberhard, Suls, Arvid, Weckhuysen, Sarah, Gormley, Padhraig, Lehesjoki, Anna-Elina, De Jonghe, Peter, Helbig, Ingo, Baulac, Stephanie, Zara, Federico, Koeleman, Bobby P. C., Consortium, Euroepinomics R. E. S., Haaf, Thomas, LeGuern, Eric, and Depienne, Christel

Published
2014

27. Structural genomic variation in childhood epilepsies with complex phenotypes

Author

Helbig, Ingo, Swinkels, Marielle E M, Aten, Emmelien, Caliebe, Almuth, van 't Slot, Ruben, Boor, Rainer, von Spiczak, Sarah, Muhle, Hiltrud, Jähn, Johanna A, van Binsbergen, Ellen, van Nieuwenhuizen, Onno, Jansen, Floor E, Braun, Kees P J, de Haan, Gerrit-Jan, Tommerup, Niels, Stephani, Ulrich, Hjalgrim, Helle, Poot, Martin, Lindhout, Dick, Brilstra, Eva H, Møller, Rikke S, Koeleman, Bobby P C, Helbig, Ingo, Swinkels, Marielle E M, Aten, Emmelien, Caliebe, Almuth, van 't Slot, Ruben, Boor, Rainer, von Spiczak, Sarah, Muhle, Hiltrud, Jähn, Johanna A, van Binsbergen, Ellen, van Nieuwenhuizen, Onno, Jansen, Floor E, Braun, Kees P J, de Haan, Gerrit-Jan, Tommerup, Niels, Stephani, Ulrich, Hjalgrim, Helle, Poot, Martin, Lindhout, Dick, Brilstra, Eva H, Møller, Rikke S, and Koeleman, Bobby P C

Abstract

A genetic contribution to a broad range of epilepsies has been postulated, and particularly copy number variations (CNVs) have emerged as significant genetic risk factors. However, the role of CNVs in patients with epilepsies with complex phenotypes is not known. Therefore, we investigated the role of CNVs in patients with unclassified epilepsies and complex phenotypes. A total of 222 patients from three European countries, including patients with structural lesions on magnetic resonance imaging (MRI), dysmorphic features, and multiple congenital anomalies, were clinically evaluated and screened for CNVs. MRI findings including acquired or developmental lesions and patient characteristics were subdivided and analyzed in subgroups. MRI data were available for 88.3% of patients, of whom 41.6% had abnormal MRI findings. Eighty-eight rare CNVs were discovered in 71 out of 222 patients (31.9%). Segregation of all identified variants could be assessed in 42 patients, 11 of which were de novo. The frequency of all structural variants and de novo variants was not statistically different between patients with or without MRI abnormalities or MRI subcategories. Patients with dysmorphic features were more likely to carry a rare CNV. Genome-wide screening methods for rare CNVs may provide clues for the genetic etiology in patients with a broader range of epilepsies than previously anticipated, including in patients with various brain anomalies detectable by MRI. Performing genome-wide screens for rare CNVs can be a valuable contribution to the routine diagnostic workup in patients with a broad range of childhood epilepsies.

Published
2014

28. Structural genomic variation in childhood epilepsies with complex phenotypes

Author

Helbig, Ingo, primary, Swinkels, Marielle E M, additional, Aten, Emmelien, additional, Caliebe, Almuth, additional, van 't Slot, Ruben, additional, Boor, Rainer, additional, von Spiczak, Sarah, additional, Muhle, Hiltrud, additional, Jähn, Johanna A, additional, van Binsbergen, Ellen, additional, van Nieuwenhuizen, Onno, additional, Jansen, Floor E, additional, Braun, Kees P J, additional, de Haan, Gerrit-Jan, additional, Tommerup, Niels, additional, Stephani, Ulrich, additional, Hjalgrim, Helle, additional, Poot, Martin, additional, Lindhout, Dick, additional, Brilstra, Eva H, additional, Møller, Rikke S, additional, and Koeleman, Bobby PC, additional

Published
2013
Full Text
View/download PDF

29. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Author

Köhler, Sebastian, primary, Doelken, Sandra C., additional, Mungall, Christopher J., additional, Bauer, Sebastian, additional, Firth, Helen V., additional, Bailleul-Forestier, Isabelle, additional, Black, Graeme C. M., additional, Brown, Danielle L., additional, Brudno, Michael, additional, Campbell, Jennifer, additional, FitzPatrick, David R., additional, Eppig, Janan T., additional, Jackson, Andrew P., additional, Freson, Kathleen, additional, Girdea, Marta, additional, Helbig, Ingo, additional, Hurst, Jane A., additional, Jähn, Johanna, additional, Jackson, Laird G., additional, Kelly, Anne M., additional, Ledbetter, David H., additional, Mansour, Sahar, additional, Martin, Christa L., additional, Moss, Celia, additional, Mumford, Andrew, additional, Ouwehand, Willem H., additional, Park, Soo-Mi, additional, Riggs, Erin Rooney, additional, Scott, Richard H., additional, Sisodiya, Sanjay, additional, Vooren, Steven Van, additional, Wapner, Ronald J., additional, Wilkie, Andrew O. M., additional, Wright, Caroline F., additional, Vulto-van Silfhout, Anneke T., additional, Leeuw, Nicole de, additional, de Vries, Bert B. A., additional, Washingthon, Nicole L., additional, Smith, Cynthia L., additional, Westerfield, Monte, additional, Schofield, Paul, additional, Ruef, Barbara J., additional, Gkoutos, Georgios V., additional, Haendel, Melissa, additional, Smedley, Damian, additional, Lewis, Suzanna E., additional, and Robinson, Peter N., additional

Published
2013
Full Text
View/download PDF

30. Atypical Vitamin B6Deficiency

Author

Baumgart, Anna, primary, Spiczak, Sarah von, additional, Verhoeven-Duif, Nanda M., additional, Møller, Rikke S., additional, Boor, Rainer, additional, Muhle, Hiltrud, additional, Jähn, Johanna A., additional, Klitten, Laura L., additional, Hjalgrim, Helle, additional, Lindhout, Dick, additional, Stephani, Ulrich, additional, van Kempen, Marjan J. A., additional, and Helbig, Ingo, additional

Published
2013
Full Text
View/download PDF

31. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Author

Lemke, Johannes R, primary, Lal, Dennis, additional, Reinthaler, Eva M, additional, Steiner, Isabelle, additional, Nothnagel, Michael, additional, Alber, Michael, additional, Geider, Kirsten, additional, Laube, Bodo, additional, Schwake, Michael, additional, Finsterwalder, Katrin, additional, Franke, Andre, additional, Schilhabel, Markus, additional, Jähn, Johanna A, additional, Muhle, Hiltrud, additional, Boor, Rainer, additional, Van Paesschen, Wim, additional, Caraballo, Roberto, additional, Fejerman, Natalio, additional, Weckhuysen, Sarah, additional, De Jonghe, Peter, additional, Larsen, Jan, additional, Møller, Rikke S, additional, Hjalgrim, Helle, additional, Addis, Laura, additional, Tang, Shan, additional, Hughes, Elaine, additional, Pal, Deb K, additional, Veri, Kadi, additional, Vaher, Ulvi, additional, Talvik, Tiina, additional, Dimova, Petia, additional, Guerrero López, Rosa, additional, Serratosa, José M, additional, Linnankivi, Tarja, additional, Lehesjoki, Anna-Elina, additional, Ruf, Susanne, additional, Wolff, Markus, additional, Buerki, Sarah, additional, Wohlrab, Gabriele, additional, Kroell, Judith, additional, Datta, Alexandre N, additional, Fiedler, Barbara, additional, Kurlemann, Gerhard, additional, Kluger, Gerhard, additional, Hahn, Andreas, additional, Haberlandt, D Edda, additional, Kutzer, Christina, additional, Sperner, Jürgen, additional, Becker, Felicitas, additional, Weber, Yvonne G, additional, Feucht, Martha, additional, Steinböck, Hannelore, additional, Neophythou, Birgit, additional, Ronen, Gabriel M, additional, Gruber-Sedlmayr, Ursula, additional, Geldner, Julia, additional, Harvey, Robert J, additional, Hoffmann, Per, additional, Herms, Stefan, additional, Altmüller, Janine, additional, Toliat, Mohammad R, additional, Thiele, Holger, additional, Nürnberg, Peter, additional, Wilhelm, Christian, additional, Stephani, Ulrich, additional, Helbig, Ingo, additional, Lerche, Holger, additional, Zimprich, Fritz, additional, Neubauer, Bernd A, additional, Biskup, Saskia, additional, and von Spiczak, Sarah, additional

Published
2013
Full Text
View/download PDF

33. Atypical Vitamin B6 Deficiency: A Rare Cause of Unexplained Neonatal and Infantile Epilepsies.

Author

Baumgart, Anna, Spiczak, Sarah von, Verhoeven-Duif, Nanda M., Møller, Rikke S., Boor, Rainer, Muhle, Hiltrud, Jähn, Johanna A., Klitten, Laura L., Hjalgrim, Helle, Lindhout, Dick, Stephani, Ulrich, van Kempen, Marjan J. A., and Helbig, Ingo

Subjects
CHILDHOOD epilepsy, VITAMIN B6 deficiency, PERINATAL death, EPILEPSY risk factors, HEPATIC encephalopathy, THERAPEUTICS
Abstract

ALDH7A1 and PNPO deficiencies are rare inborn errors of vitamin B6 metabolism causing perinatal seizure disorders. The phenotypic variability, however, is broad. To assess the frequency of these deficiencies in unexplained infantile epilepsy, we screened 113 patients for mutations in both genes. We identified 1 patient with an epilepsy phenotype resembling Dravet syndrome and likely pathogenic mutations in ALDH7A1. Presenting features were highly atypical of pyridoxine-dependent epilepsy, including febrile seizures, response to anticonvulsive drugs, and periods of seizure freedom without pyridoxine treatment. “Hidden” vitamin B6 deficiencies might be rare but treatable causes of unexplained epilepsy extending beyond the classical phenotypes. [ABSTRACT FROM PUBLISHER]

Published
2014
Full Text
View/download PDF

34. Pitfalls in genetic testing: the story of missed SCN1A mutations

Author

Djémié, Tania, Weckhuysen, Sarah, von Spiczak, Sarah, Carvill, Gemma L., Jaehn, Johanna, Anttonen, Anna‐Kaisa, Brilstra, Eva, Caglayan, Hande S., de Kovel, Carolien G., Depienne, Christel, Gaily, Eija, Gennaro, Elena, Giraldez, Beatriz G., Gormley, Padhraig, Guerrero‐López, Rosa, Guerrini, Renzo, Hämäläinen, Eija, Hartmann, Corinna, Hernandez‐Hernandez, Laura, Hjalgrim, Helle, Koeleman, Bobby P. C., Leguern, Eric, Lehesjoki, Anna‐Elina, Lemke, Johannes R., Leu, Costin, Marini, Carla, McMahon, Jacinta M., Mei, Davide, Møller, Rikke S., Muhle, Hiltrud, Myers, Candace T., Nava, Caroline, Serratosa, Jose M., Sisodiya, Sanjay M., Stephani, Ulrich, Striano, Pasquale, van Kempen, Marjan J. A., Verbeek, Nienke E., Usluer, Sunay, Zara, Federico, Palotie, Aarno, Mefford, Heather C., Scheffer, Ingrid E., De Jonghe, Peter, Helbig, Ingo, and Suls, Arvid

Subjects
Original Article, Dravet syndrome, epilepsy, genetic screening, next‐generation sequencing, Sanger sequencing
Abstract

Background: Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next‐generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and NGS affect the molecular diagnosis of patients. Since mutations in SCN1A, the major gene implicated in epilepsy, are found in the majority of Dravet syndrome (DS) patients, we focused on missed SCN1A mutations. Methods: We sent out a survey to 16 genetic centers performing SCN1A testing. Results: We collected data on 28 mutations initially missed using Sanger sequencing. All patients were falsely reported as SCN1A mutation‐negative, both due to technical limitations and human errors. Conclusion: We illustrate the pitfalls of Sanger sequencing and most importantly provide evidence that SCN1A mutations are an even more frequent cause of DS than already anticipated.

Published
2016
Full Text
View/download PDF

35. CDKL5 Mutations as a Cause of Severe Epilepsy in Infancy: Clinical and Electroencephalographic Long-term Course in 4 Patients.

Author

Jähn, Johanna, Caliebe, Almuth, von Spiczak, Sarah, Boor, Rainer, Stefanova, Irina, Stephani, Ulrich, Helbig, Ingo, and Muhle, Hiltrud

Subjects
*INFANTILE spasms, *CYCLIN-dependent kinase genetics, *CHILDHOOD epilepsy, *ELECTROENCEPHALOGRAPHY, *INTELLECTUAL disabilities, *DIAGNOSIS
Abstract

CDKL5 mutations cause severe epilepsy in infancy with subsequent epileptic encephalopathy. As yet, few studies report on long-term observations in patients with CDKL5-related epileptic encephalopathy. In this study, we describe the evolution of the epilepsy phenotype and the electroencephalographic (EEG) features in 4 patients during a maximum observation period of 22 years. All 4 patients had epilepsy starting with focal seizures in the first 3 months of life, evolving to epileptic spasms between the ages of 2 and 6 years and later on to tonic seizures. In 3 patients, epilepsy was resistant to antiepileptic therapy. Although there was no common EEG pattern in all patients, late hypsarrhythmia until the age of 9 years was observed in 2 patients. CDKL5-related epileptic encephalopathies are a group of refractory seizure disorders starting in early infancy. The phenomenon of late hypsarrhythmia may help define a subgroup of patients with severe and adverse outcomes. [ABSTRACT FROM PUBLISHER]

Published
2013
Full Text
View/download PDF

37. Structural genomic variation in childhood epilepsies with complex phenotypes.

Author

Helbig I, Swinkels ME, Aten E, Caliebe A, van 't Slot R, Boor R, von Spiczak S, Muhle H, Jähn JA, van Binsbergen E, van Nieuwenhuizen O, Jansen FE, Braun KP, de Haan GJ, Tommerup N, Stephani U, Hjalgrim H, Poot M, Lindhout D, Brilstra EH, Møller RS, and Koeleman BP

Subjects
Adolescent, Adult, Child, Preschool, Female, Genome-Wide Association Study, Humans, Infant, Male, Radiography, Abnormalities, Multiple diagnostic imaging, Abnormalities, Multiple genetics, Epilepsy diagnostic imaging, Epilepsy genetics, Gene Dosage, Genetic Variation, Magnetic Resonance Imaging, Phenotype
Abstract

A genetic contribution to a broad range of epilepsies has been postulated, and particularly copy number variations (CNVs) have emerged as significant genetic risk factors. However, the role of CNVs in patients with epilepsies with complex phenotypes is not known. Therefore, we investigated the role of CNVs in patients with unclassified epilepsies and complex phenotypes. A total of 222 patients from three European countries, including patients with structural lesions on magnetic resonance imaging (MRI), dysmorphic features, and multiple congenital anomalies, were clinically evaluated and screened for CNVs. MRI findings including acquired or developmental lesions and patient characteristics were subdivided and analyzed in subgroups. MRI data were available for 88.3% of patients, of whom 41.6% had abnormal MRI findings. Eighty-eight rare CNVs were discovered in 71 out of 222 patients (31.9%). Segregation of all identified variants could be assessed in 42 patients, 11 of which were de novo. The frequency of all structural variants and de novo variants was not statistically different between patients with or without MRI abnormalities or MRI subcategories. Patients with dysmorphic features were more likely to carry a rare CNV. Genome-wide screening methods for rare CNVs may provide clues for the genetic etiology in patients with a broader range of epilepsies than previously anticipated, including in patients with various brain anomalies detectable by MRI. Performing genome-wide screens for rare CNVs can be a valuable contribution to the routine diagnostic workup in patients with a broad range of childhood epilepsies.

Published
2014
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results