Search

Your search keyword '"Joshi, Sucheta"' showing total 131 results
Start Over "Joshi, Sucheta"
131 results on '"Joshi, Sucheta"'

4. Response to second treatment after initial failed treatment in a multicenter prospective infantile spasms cohort

Author

Knupp, Kelly G, Leister, Erin, Coryell, Jason, Nickels, Katherine C, Ryan, Nicole, Juarez‐Colunga, Elizabeth, Gaillard, William D, Mytinger, John R, Berg, Anne T, Millichap, John, Nordli, Douglas R, Joshi, Sucheta, Shellhaas, Renée A, Loddenkemper, Tobias, Dlugos, Dennis, Wirrell, Elaine, Sullivan, Joseph, Hartman, Adam L, Kossoff, Eric H, Grinspan, Zachary M, Hamikawa, Lorie, and Consortium, the Pediatric Epilepsy Research

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Pediatric, Clinical Research, Clinical Trials and Supportive Activities, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Adrenocorticotropic Hormone, Anticonvulsants, Cohort Studies, Female, Humans, Infant, Male, Spasms, Infantile, Treatment Failure, Vigabatrin, Infantile spasms, Adrenocorticotropic hormone, Second-line treatment, Pediatric Epilepsy Research Consortium, Neurosciences, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveInfantile spasms (IS) represent a severe epileptic encephalopathy presenting in the first 2 years of life. Recommended first-line therapies (hormonal therapy or vigabatrin) often fail. We evaluated response to second treatment for IS in children in whom the initial therapy failed to produce both clinical remission and electrographic resolution of hypsarhythmia and whether time to treatment was related to outcome.MethodsThe National Infantile Spasms Consortium established a multicenter, prospective database enrolling infants with new diagnosis of IS. Children were considered nonresponders to first treatment if there was no clinical remission or persistence of hypsarhythmia. Treatment was evaluated as hormonal therapy (adrenocorticotropic hormone [ACTH] or oral corticosteroids), vigabatrin, or "other." Standard treatments (hormonal and vigabatrin) were compared to all other nonstandard treatments. We compared response rates using chi-square tests and multivariable logistic regression models.ResultsOne hundred eighteen infants were included from 19 centers. Overall response rate to a second treatment was 37% (n = 44). Children who received standard medications with differing mechanisms for first and second treatment had higher response rates than other sequences (27/49 [55%] vs. 17/69 [25%], p < 0.001). Children receiving first treatment within 4 weeks of IS onset had a higher response rate to second treatment than those initially treated later (36/82 [44%] vs. 8/34 [24%], p = 0.040).SignificanceGreater than one third of children with IS will respond to a second medication. Choosing a standard medication (ACTH, oral corticosteroids, or vigabatrin) that has a different mechanism of action appears to be more effective. Rapid initial treatment increases the likelihood of response to the second treatment.

Published
2016

5. Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy

Author

Allen, Andrew S, Berkovic, Samuel F, Coe, Bradley P, Cook, Joseph, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Eichler, Evan E, Epstein, Michael P, Glauser, Tracy, Goldstein, David B, Heinzen, Erin L, Johnson, Michael R, Krumm, Nik, Kuzniecky, Ruben, Lowenstein, Daniel H, Marson, Anthony G, Mefford, Heather C, Nelson, Ben, Esmaeeli Nieh, Sahar, O'Brien, Terence J, Ottman, Ruth, Petrou, Stephen, Petrovski, Slavé, Poduri, Annapurna, Raja, Archana, Ruzzo, Elizabeth K, Scheffer, Ingrid E, Sherr, Elliott, Abou‐Khalil, Bassel, Alldredge, Brian K, Andermann, Eva, Andermann, Frederick, Amron, Dina, Bautista, Jocelyn F, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Fiol, Miguel, Fountain, Nathan B, French, Jacqueline, Friedman, Daniel, Geller, Eric B, Glynn, Simon, Haut, Sheryl R, Hayward, Jean, Helmers, Sandra L, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E, Knowlton, Robert C, Kossoff, Eric H, Kuperman, Rachel, McGuire, Shannon M, Motika, Paul V, Novotny, Edward J, Paolicchi, Juliann M, Parent, Jack, Park, Kristen, Shellhaas, Renée A, Shih, Jerry J, Singh, Rani, Sirven, Joseph, Smith, Michael C, Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen PG, Von Allmen, Gretchen K, Weisenberg, Judith L, Widdess‐Walsh, Peter, and Winawer, Melodie R

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Neurodegenerative, Genetics, Intellectual and Developmental Disabilities (IDD), Epilepsy, Pediatric, Clinical Research, Brain Disorders, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adult, Child, Preschool, Cohort Studies, DNA Copy Number Variations, Exome, Female, Humans, Infant, Infant, Newborn, Lennox Gastaut Syndrome, Male, Parents, Sequence Analysis, DNA, Spasms, Infantile, Epilepsy Phenome/Genome Project Epi4K Consortium, Neurology & Neurosurgery, Clinical sciences
Abstract

Infantile spasms (IS) and Lennox-Gastaut syndrome (LGS) are epileptic encephalopathies characterized by early onset, intractable seizures, and poor developmental outcomes. De novo sequence mutations and copy number variants (CNVs) are causative in a subset of cases. We used exome sequence data in 349 trios with IS or LGS to identify putative de novo CNVs. We confirm 18 de novo CNVs in 17 patients (4.8%), 10 of which are likely pathogenic, giving a firm genetic diagnosis for 2.9% of patients. Confirmation of exome-predicted CNVs by array-based methods is still required due to false-positive rates of prediction algorithms. Our exome-based results are consistent with recent array-based studies in similar cohorts and highlight novel candidate genes for IS and LGS.

Published
2015

6. 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

7. The epilepsy phenome/genome project.

Author

EPGP Collaborative, Abou-Khalil, Bassel, Alldredge, Brian, Bautista, Jocelyn, Berkovic, Sam, Bluvstein, Judith, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Cristofaro, Sabrina, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael, Fahlstrom, Robyn, Fiol, Miguel, Fountain, Nathan, Fox, Kristen, French, Jacqueline, Freyer Karn, Catharine, Friedman, Daniel, Geller, Eric, Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl, Hayward, Jean, Helmers, Sandra, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi, Knowlton, Robert, Kossoff, Eric, Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel, McGuire, Shannon, Motika, Paul, Nesbitt, Gerard, Novotny, Edward, Ottman, Ruth, Paolicchi, Juliann, Parent, Jack, Park, Kristen, Poduri, Annapurna, Risch, Neil, Sadleir, Lynette, Scheffer, Ingrid, Shellhaas, Renee, Sherr, Elliott, Shih, Jerry J, Shinnar, Shlomo, Singh, Rani, Sirven, Joseph, Smith, Michael, Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen, von Allmen, Gretchen, Weisenberg, Judith, Widdess-Walsh, Peter, and Winawer, Melodie

Subjects
EPGP Collaborative, Humans, Epilepsy, Oligonucleotide Array Sequence Analysis, Retrospective Studies, Genetic Research, Genotype, Phenotype, Research Design, Information Management, Clinical Research, Neurodegenerative, Neurosciences, Brain Disorders, Genetics, 2.1 Biological and endogenous factors, Aetiology, Neurological, Statistics, Clinical Sciences, Statistics & Probability
Abstract

BackgroundEpilepsy is a common neurological disorder that affects approximately 50 million people worldwide. Both risk of epilepsy and response to treatment partly depend on genetic factors, and gene identification is a promising approach to target new prediction, treatment, and prevention strategies. However, despite significant progress in the identification of genes causing epilepsy in families with a Mendelian inheritance pattern, there is relatively little known about the genetic factors responsible for common forms of epilepsy and so-called epileptic encephalopathies. Study design The Epilepsy Phenome/Genome Project (EPGP) is a multi-institutional, retrospective phenotype-genotype study designed to gather and analyze detailed phenotypic information and DNA samples on 5250 participants, including probands with specific forms of epilepsy and, in a subset, parents of probands who do not have epilepsy.ResultsEPGP is being executed in four phases: study initiation, pilot, study expansion/establishment, and close-out. This article discusses a number of key challenges and solutions encountered during the first three phases of the project, including those related to (1) study initiation and management, (2) recruitment and phenotyping, and (3) data validation. The study has now enrolled 4223 participants.ConclusionsEPGP has demonstrated the value of organizing a large network into cores with specific roles, managed by a strong Administrative Core that utilizes frequent communication and a collaborative model with tools such as study timelines and performance-payment models. The study also highlights the critical importance of an effective informatics system, highly structured recruitment methods, and expert data review.

Published
2013

9. The impact of hypsarrhythmia on infantile spasms treatment response: Observational cohort study from the National Infantile Spasms Consortium

Author

Demarest, Scott T., Shellhaas, Renée A., Gaillard, William D., Keator, Cynthia, Nickels, Katherine C., Hussain, Shaun A., Loddenkemper, Tobias, Patel, Anup D., Saneto, Russell P., Wirrell, Elaine, Sánchez Fernández, Iván, Chu, Catherine J., Grinspan, Zachary, Wusthoff, Courtney J., Joshi, Sucheta, Mohamed, Ismail S., Stafstrom, Carl E., Stack, Cynthia V., Yozawitz, Elissa, Bluvstein, Judith S., Singh, Rani K., and Knupp, Kelly G.

Published
2017
Full Text
View/download PDF

11. Response to treatment in a prospective national infantile spasms cohort

Author

Knupp, Kelly G., Coryell, Jason, Nickels, Katherine C., Ryan, Nicole, Leister, Erin, Loddenkemper, Tobias, Grinspan, Zachary, Hartman, Adam L., Kossoff, Eric H., Gaillard, William D., Mytinger, John R., Joshi, Sucheta, Shellhaas, Renée A., Sullivan, Joseph, Dlugos, Dennis, Hamikawa, Lorie, Berg, Anne T., Millichap, John, Nordli, Douglas R., Jr, and Wirrell, Elaine

Published
2016
Full Text
View/download PDF

14. Barriers, access and management of paediatric epilepsy with telehealth

Author

Gali, Kari, primary, Joshi, Sucheta, additional, Hueneke, Sarah, additional, Katzenbach, Alexis, additional, Radecki, Linda, additional, Calabrese, Trisha, additional, Fletcher, Linda, additional, Trandafir, Cristina, additional, Wilson, Carey, additional, Goyal, Monisha, additional, Wusthoff, Courtney J, additional, Le Pichon, Jean-Baptiste, additional, Corvalan, Rhonda, additional, Golson, April, additional, Hardy, Jessica, additional, Smith, Michael, additional, Cook, Elizabeth, additional, and Bonkowsky, Joshua L, additional

Published
2020
Full Text
View/download PDF

15. De novo mutations in epileptic encephalopathies

Author

Allen, Andrew S., Cossette, Patrick, Delanty, Norman, Eichler, Evan E., Epstein, Michael P., Glauser, Tracy, Goldstein, David B., Han, Yujun, Heinzen, Erin L., Hitomi, Yuki, Howell, Katherine B., Johnson, Michael R., Kuzniecky, Ruben, Lowenstein, Daniel H., Lu, Yi-Fan, Madou, Maura R. Z., Marson, Anthony G., Mefford, Heather C., Nieh, Sahar Esmaeeli, OʼBrien, Terence J., Ottman, Ruth, Petrovski, Slavé, Poduri, Annapurna, Ruzzo, Elizabeth K., Sherr, Elliott H., Yuskaitis, Christopher J., Abou-Khalil, Bassel, Alldredge, Brian K., Bautista, Jocelyn F., Berkovic, Samuel F., Boro, Alex, Cascino, Gregory D., Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glynn, Simon, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Paolicchi, Juliann M., Parent, Jack M., Park, Kristen, Scheffer, Ingrid E., Shellhaas, Renée A., Shih, Jerry J., Singh, Rani, 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.

Published
2013
Full Text
View/download PDF

16. Barriers, access and management of paediatric epilepsy with telehealth.

Author

Gali, Kari, Joshi, Sucheta, Hueneke, Sarah, Katzenbach, Alexis, Radecki, Linda, Calabrese, Trisha, Fletcher, Linda, Trandafir, Cristina, Wilson, Carey, Goyal, Monisha, Wusthoff, Courtney J, Le Pichon, Jean-Baptiste, Corvalan, Rhonda, Golson, April, Hardy, Jessica, Smith, Michael, Cook, Elizabeth, and Bonkowsky, Joshua L

Abstract

Access to paediatric neurology care is complex, resulting in significant wait times and negative patient outcomes. The goal of the American Academy of Pediatrics National Coordinating Center for Epilepsy's project, Access Improvement and Management of Epilepsy with Telehealth (AIM-ET), was to identify access and management challenges in the deployment of telehealth technology. AIM-ET organised four paediatric neurology teams to partner with primary-care providers (PCP) and their multidisciplinary teams. Telehealth visits were conducted for paediatric epilepsy patients. A post-visit survey assessed access and satisfaction with the telehealth visit compared to an in-person visit. Pre/post surveys completed by PCPs and neurologists captured telehealth visit feasibility, functionality and provider satisfaction. A provider focus group assessed facilitators and barriers to telehealth. Sixty-one unique patients completed 75 telehealth visits. Paired t-test analysis demonstrated that telehealth enhanced access to epilepsy care. It reduced self-reported out-of-pocket costs (p<0.001), missed school hours (p<0.001) and missed work hours (p<0.001), with 94% equal parent/caregiver satisfaction. Focus groups indicated developing and maintaining partnerships, institutional infrastructure and education as facilitators and barriers to telehealth. Telehealth shortened travelling distance, reduced expenses and time missed from school and work. Further, it provides significant opportunity in an era when coronavirus disease 2019 limits in-person clinics. [ABSTRACT FROM AUTHOR]

Published
2022
Full Text
View/download PDF

17. Integrating quality improvement into the ECHO model to improve care for children and youth with epilepsy

Author

Joshi, Sucheta, primary, Gali, Kari, additional, Radecki, Linda, additional, Shah, Amy, additional, Hueneke, Sarah, additional, Calabrese, Trisha, additional, Katzenbach, Alexis, additional, Sachdeva, Ramesh, additional, Brown, Lawrence, additional, Kimball, Eve, additional, White, Patience, additional, McManus, Peggy, additional, Wood, David, additional, Nelson, Eve‐Lynn, additional, and Archuleta, Pattie, additional

Published
2020
Full Text
View/download PDF

21. Management of Infantile Spasms During the COVID-19 Pandemic

Author

Grinspan, Zachary M., primary, Mytinger, John R., additional, Baumer, Fiona M., additional, Ciliberto, Michael A., additional, Cohen, Bruce H., additional, Dlugos, Dennis J., additional, Harini, Chellamani, additional, Hussain, Shaun A., additional, Joshi, Sucheta M., additional, Keator, Cynthia G., additional, Knupp, Kelly G., additional, McGoldrick, Patricia E., additional, Nickels, Katherine C., additional, Park, Jun T., additional, Pasupuleti, Archana, additional, Patel, Anup D., additional, Shahid, Asim M., additional, Shellhaas, Renee A., additional, Shrey, Daniel W., additional, Singh, Rani K., additional, Wolf, Steven M., additional, Yozawitz, Elissa G., additional, Yuskaitis, Christopher J., additional, Waugh, Jeff L., additional, and Pearl, Phillip L., additional

Published
2020
Full Text
View/download PDF

22. 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

23. 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, Slave, Poduri, Annapurna, Ren, Zhong, Scheffer, Ingrid E, Sherr, Elliott, Wang, Quanli, Balling, Rudi, Barisic, Nina, Baulac, Stephanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jaehn, 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, Moller, 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, Renee A, Sirven, Joseph, Smith, Michael C, Sullivan, Joseph, Thio, Liu Lin, Venkat, Anu, Vining, Eileen PG, Von Allmen, Gretchen K, Weisenberg, Judith L, Widdess-Walsh, Peter, Winawer, Melodie R, Consortium, Epi4K, Consortium, EuroEPINOMICS-RES, Project, Epilepsy Phenome Genome, Epi4K Consortium, EuroEPINOMICS- RES Consortium, and Epilepsy Phenome Genome Project

Subjects
0301 basic medicine, Linkage disequilibrium, medicine.medical_specialty, genetic structures, Population, Disequilibrium, Short Report, Genome-wide association study, Biology, Bioinformatics, Linkage Disequilibrium, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Epilepsy Phenome/Genome Project, medicine, Genetics, Journal Article, Humans, Genetics(clinical), Genetic Predisposition to Disease, education, Genetics (clinical), education.field_of_study, Polymorphism, Genetic, Lennox Gastaut Syndrome, Infant, Transmission disequilibrium test, medicine.disease, Multicenter Study, Chemistry, 030104 developmental biology, Medical genetics, Human medicine, medicine.symptom, Spasms, Infantile, 030217 neurology & neurosurgery, Lennox–Gastaut syndrome, Genome-Wide Association Study
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

24. Using community health workers to refer pregnant women and young children to health care facilities in rural West Bengal, India: A prospective cohort study

Author

Wagner, Abram L., primary, Xia, Lu, additional, Ghosh, Aparna, additional, Datta, Sandip, additional, Pandey, Priyamvada, additional, Santra, Sujay, additional, Chattopadhyay, Sharmila, additional, Nandi, Uddip, additional, Mazumder, Tanusree, additional, Joshi, Sucheta, additional, Pal, Joyojeet, additional, and Mukherjee, Bhramar, additional

Published
2018
Full Text
View/download PDF

26. Changing data practices for community health workers

Author

Pal, Joyojeet, primary, Dasika, Anjuli, additional, Hasan, Ahmad, additional, Wolf, Jackie, additional, Reid, Nick, additional, Kameswaran, Vaishnav, additional, Yardi, Purva, additional, Mackay, Allyson, additional, Wagner, Abram, additional, Mukherjee, Bhramar, additional, Joshi, Sucheta, additional, Santra, Sujay, additional, and Pandey, Priyamvada, additional

Published
2017
Full Text
View/download PDF

27. 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

28. 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

29. 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

30. Initial Treatment for Nonsyndromic Early-Life Epilepsy: An Unexpected Consensus

Author

Shellhaas, Renée A., primary, Berg, Anne T., additional, Grinspan, Zachary M., additional, Wusthoff, Courtney J., additional, Millichap, John J., additional, Loddenkemper, Tobias, additional, Coryell, Jason, additional, Saneto, Russell P., additional, Chu, Catherine J., additional, Joshi, Sucheta M., additional, Sullivan, Joseph E., additional, Knupp, Kelly G., additional, Kossoff, Eric H., additional, Keator, Cynthia, additional, Wirrell, Elaine C., additional, Mytinger, John R., additional, Valencia, Ignacio, additional, Massey, Shavonne, additional, and Gaillard, William D., additional

Published
2017
Full Text
View/download PDF

32. Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

Author

Allen, Andrew S, primary, Bellows, Susannah T, additional, Berkovic, Samuel F, additional, Bridgers, Joshua, additional, Burgess, Rosemary, additional, Cavalleri, Gianpiero, additional, Chung, Seo-Kyung, additional, Cossette, Patrick, additional, Delanty, Norman, additional, Dlugos, Dennis, additional, Epstein, Michael P, additional, Freyer, Catharine, additional, Goldstein, David B, additional, Heinzen, Erin L, additional, Hildebrand, Michael S, additional, Johnson, Michael R, additional, Kuzniecky, Ruben, additional, Lowenstein, Daniel H, additional, Marson, Anthony G, additional, Mayeux, Richard, additional, Mebane, Caroline, additional, Mefford, Heather C, additional, O'Brien, Terence J, additional, Ottman, Ruth, additional, Petrou, Steven, additional, Petrovski, Slavgé, additional, Pickrell, William O, additional, Poduri, Annapurna, additional, Radtke, Rodney A, additional, Rees, Mark I, additional, Regan, Brigid M, additional, Ren, Zhong, additional, Scheffer, Ingrid E, additional, Sills, Graeme J, additional, Thomas, Rhys H, additional, Wang, Quanli, additional, Abou-Khalil, Bassel, additional, Alldredge, Brian K, additional, Amrom, Dina, additional, Andermann, Eva, additional, Andermann, Frederick, additional, Bautista, Jocelyn F., additional, Bluvstein, Judith, additional, Boro, Alex, additional, Cascino, Gregory D, additional, Consalvo, Damian, additional, Crumrine, Patricia, additional, Devinsky, Orrin, 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, Motika, Paul V, additional, Novotny, Edward J, additional, Paolicchi, Juliann M, additional, Parent, Jack M, additional, Park, Kristen, additional, Sadleir, Lynette G, additional, Shellhaas, Renée A., additional, Sherr, Elliott H, additional, Shih, Jerry J., additional, Shinnar, Shlomo, additional, Singh, Rani K, additional, Sirven, Joseph, additional, Smith, Michael C, additional, Sullivan, Joseph, 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, and Winawer, Melodie R, additional

Published
2017
Full Text
View/download PDF

33. 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

35. Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy

Author

Allen, Andrew S., Berkovic, Samuel F., Coe, Bradley P., Cook, Joseph, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Eichler, Evan E., Epstein, Michael P., Glauser, Tracy, Goldstein, David B., Heinzen, Erin L., Johnson, Michael R., Krumm, Nik, Kuzniecky, Ruben, Lowenstein, Daniel H., Marson, Anthony G., Mefford, Heather C., Nelson, Ben, Esmaeeli Nieh, Sahar, O'Brien, Terence J., Ottman, Ruth, Petrou, Stephen, Petrovski, Slavé, Poduri, Annapurna, Raja, Archana, Ruzzo, Elizabeth K., Scheffer, Ingrid E., Sherr, Elliott, Abou‐Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amron, Dina, Bautista, Jocelyn F., Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glynn, Simon, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Shellhaas, Renée A., 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., and Wellcome Trust

Subjects
Parents, Male, Epilepsy Phenome/Genome Project Epi4K Consortium, Neurodegenerative, Bioinformatics, Infantile, Spasms, Cohort Studies, Epilepsy, 0302 clinical medicine, 2.1 Biological and endogenous factors, Exome, Copy-number variation, Aetiology, Child, Exome sequencing, Genetics, Pediatric, 0303 health sciences, Neurology, Child, Preschool, Female, Brief Communications, Spasms, Infantile, Sequence Analysis, Adult, DNA Copy Number Variations, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Copy number analysis, Phenome, Biology, Brief Communication, 03 medical and health sciences, Clinical Research, mental disorders, medicine, Humans, Preschool, 030304 developmental biology, Neurology & Neurosurgery, Lennox Gastaut Syndrome, Human Genome, Infant, Newborn, Neurosciences, Infant, 1103 Clinical Sciences, Sequence Analysis, DNA, DNA, medicine.disease, Newborn, Brain Disorders, Human genome, Neurology (clinical), 1109 Neurosciences, 030217 neurology & neurosurgery, Lennox–Gastaut syndrome
Abstract

The epileptic encephalopathies (EEs) are a devastating group of epilepsies in which epileptic activity and seizures contribute to cognitive impairment or regression.1 Most EEs begin in infancy or early childhood and are associated with poor developmental outcome. Although the cause is unknown in the majority of cases, recent studies confirm that de novo mutations and copy number variants (CNVs) play an important role.2, 3 We recently reported exome sequencing data in 264 parent–proband trios with infantile spasms (n = 149) or Lennox–Gastaut syndrome (LGS; n = 115) without syndromic features or magnetic resonance imaging (MRI) abnormalities from the Epilepsy Phenome/Genome Project (EPGP) cohort, identifying likely pathogenic, de novo sequence changes in >10% of patients.2 Here we report results of copy number analysis derived from the exome data of this cohort and 85 additional patients to further elucidate the genetic architecture of these paradigmatic EEs. Our exome‐based CNV calling yields similar results to array‐based studies for confirmed, de novo, likely pathogenic CNVs.

Published
2015

37. Crisis Standard of Care: Management of Infantile Spasms during COVID-19.

Author

Grinspan, Zachary M., Mytinger, John R., Baumer, Fiona M., Ciliberto, Michael A., Cohen, Bruce H., Dlugos, Dennis J., Harini, Chellamani, Hussain, Shaun A., Joshi, Sucheta M., Keator, Cynthia G., Knupp, Kelly G., McGoldrick, Patricia E., Nickels, Katherine C., Park, Jun T., Pasupuleti, Archana, Patel, Anup D., Pomeroy, Scott L., Shahid, Asim M., Shellhaas, Renee A., and Shrey, Daniel W.

Subjects
INFANTILE spasms, COVID-19, MEDICAL personnel, MEDICAL care
Abstract

Crisis standards of care" are guidelines to help health care providers deliver the best possible medical care when resources are acutely limited, such as by war, natural disaster, or public health catastrophe. Traditionally, care involves an urgent inpatient evaluation to coordinate video-electroencephalogram (EEG) monitoring, imaging, laboratory studies, and initiation of treatment. The exigency of the current public health crisis demands a fast, effective pivot in how we manage our most vulnerable patients, including a shift to an outpatient-based protocol for both diagnosis and treatment. [Extracted from the article]

Published
2020
Full Text
View/download PDF

38. Lennox- Gastaut syndrome of unknown cause: Phenotypic characteristics of patients in the Epilepsy Phenome/ Genome Project.

Author

Widdess‐Walsh, Peter, Dlugos, Dennis, Fahlstrom, Robyn, Joshi, Sucheta, Shellhaas, Renée, Boro, Alex, Sullivan, Joseph, and Geller, Eric

Subjects
LENNOX-Gastaut syndrome, PHENOTYPES, EPILEPSY, GENOMES, ETIOLOGY of diseases
Abstract

Purpose Lennox- Gastaut syndrome ( LGS) is a devastating childhood-onset epilepsy syndrome. The cause is unknown in 25% of cases. Little has been described about the specific clinical or electroencephalography ( EEG) features of LGS of unknown or genetic cause ( LGSu). The Epilepsy Phenome/ Genome Project ( EPGP) aims to characterize LGSu by phenotypic analysis of patients with LGSu and their parents. Methods One hundred thirty-five patients with LGS with no known etiology and their parents were enrolled from 19 EPGP centers in the United States and Australia. Clinical data from medical records, standardized questionnaires, imaging, and EEG were collected with use of online informatics systems developed for EPGP. Key Findings LGSu in the EPGP cohort had a broad range of onset of epilepsy from 1 to 13 years, was male predominant (p < 0.0002), and was associated with normal development prior to seizure onset in 59.2% of patients. Despite the diagnosis, almost half of the adult patients with LGSu completed secondary school. Parents were cognitively normal. All subjects had EEG recordings with generalized epileptiform abnormalities with a spike wave frequency range of 1-5 Hz (median 2 Hz), whereas 8.1% of subjects had EEG studies with a normal posterior dominant rhythm. Almost 12% of patients evolved from West syndrome. Significance LGSu has distinctive characteristics including a broad age range of onset, male predominance, and often normal development prior to the onset of seizures. Cognitive achievements such as completion of secondary school were possible in half of adult patients. Our phenotypic description of LGSu coupled with future genetic studies will advance our understanding of this epilepsy syndrome. [ABSTRACT FROM AUTHOR]

Published
2013
Full Text
View/download PDF

45. Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores

Author

Majczenko, Karen, primary, Davidson, Ann E., additional, Camelo-Piragua, Sandra, additional, Agrawal, Pankaj B., additional, Manfready, Richard A., additional, Li, Xingli, additional, Joshi, Sucheta, additional, Xu, Jishu, additional, Peng, Weiping, additional, Beggs, Alan H., additional, Li, Jun Z., additional, Burmeister, Margit, additional, and Dowling, James J., additional

Published
2012
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results