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2. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

Author

Angius, Andrea, Baker, Janice A., Bedoukian, Emma, Bhambhani, Vikas, Bodamer, Olaf, O’Brien, Alan, Clayton-Smith, Jill, Crisponi, Laura, Cueto González, Anna María, the DDD study, Devriendt, Koenraad, Garrido, Elena Dominguez, Ehmke, Nadja, van Eerde, Albertien, van den Elzen, Annette P.M., Faivre, Laurence, Fisher, Laura, Flores-Daboub, Josue A., Foster, Alison, Friedman, Jennifer, Gabau, Elisabeth, Galazzi, Elena, García-Miñaúr, Sixto, Garavelli, Livia, Gardeitchik, Thatjana, Gerkes, Erica H., van Gils, Julien, Giltay, Jacques C., Garcia, Aixa Gonzalez, Heimdal, Ketil Riddervold, Horn, Denise, Houge, Gunnar, Hufnagel, Sophia B., Ilencikova, Denisa, Julia, Sophie, Kant, Sarina G., Kinning, Esther, Klee, Eric W., Kois, Chelsea, Kovačević, Maja, Lachmeijer, A.M.A. (Guus), Lanpher, Brendan, Lebrun, Marine, Leon, Eyby, Lichty, Angie Ward, Lin, Ruth, Llano-Rivas, Isabel, Lynch, Sally Ann, Maas, Saskia M., Maitz, Silvia B., McKee, Shane, Melis, Daniela, Merati, Elisabetta, Merla, Giuseppe, Newbury-Ecob, Ruth, Nizon, Mathilde, Park, Soo-Mi, Patterson, Jennifer, Petit, Florence, Peeters, Hilde, Persani, Luca, Persico, Ivana, Pes, Valentina, Pollazzon, Marzia, Potjer, Thomas, Potocki, Lorraine, Pottinger, Carrie, Prasad, Chitra, Prijoles, Eloise J., Ragge, Nicola K., Rake, Jan Peter, van Ravenswaaij-Arts, Conny M.A., Rea, Gillian, Ruivenkamp, Claudia, Rutz, Audrey, Saitta, Sulagna C., Russo, Rossana Sanchez, Santen, Gijs W.E., Schaefer, Elise, Shashi, Vandana, Schultz-Rogers, Laura, Sluga, Andrea, Sotgiu, Stefano, Steichen-Gersdorf, Elisabeth, Sullivan, Jennifer A., Sun, Yu, Suri, Mohnish, Tartaglia, Marco, Tedder, Matt, Terhal, Paulien, Tully, Ian, Verbeek, Nienke, Wenzel, Maren, White, Susan M., Xiao, Bing, Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Hurst, Anna C.E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Santos-Simarro, Fernando, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, and Menke, Leonie A.

Published
2024
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3. Tracking the motion of the KV1.2 voltage sensor reveals the molecular perturbations caused by a de novo mutation in a case of epilepsy

Author

Pantazis, Antonios, Kaneko, Maki, Angelini, Marina, Steccanella, Federica, Westerlund, Annie M, Lindström, Sarah H, Nilsson, Michelle, Delemotte, Lucie, Saitta, Sulagna C, and Olcese, Riccardo

Subjects
Biomedical and Clinical Sciences, Neurosciences, Brain Disorders, Neurodegenerative, Epilepsy, Aetiology, 2.1 Biological and endogenous factors, Neurological, Amino Acid Substitution, Brain Diseases, Humans, Membrane Potentials, Mutation, channelopathy, epilepsy, fluorometry, gain of function, loss of function, molecular dynamics, potassium channel, Biological Sciences, Medical and Health Sciences, Physiology, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Key pointsKV 1.2 channels, encoded by the KCNA2 gene, regulate neuronal excitability by conducting K+ upon depolarization. A new KCNA2 missense variant was discovered in a patient with epilepsy, causing amino acid substitution F302L at helix S4, in the KV 1.2 voltage-sensing domain. Immunocytochemistry and flow cytometry showed that F302L does not impair KCNA2 subunit surface trafficking. Molecular dynamics simulations indicated that F302L alters the exposure of S4 residues to membrane lipids. Voltage clamp fluorometry revealed that the voltage-sensing domain of KV 1.2-F302L channels is more sensitive to depolarization. Accordingly, KV 1.2-F302L channels opened faster and at more negative potentials; however, they also exhibited enhanced inactivation: that is, F302L causes both gain- and loss-of-function effects. Coexpression of KCNA2-WT and -F302L did not fully rescue these effects. The proband's symptoms are more characteristic of patients with loss of KCNA2 function. Enhanced KV 1.2 inactivation could lead to increased synaptic release in excitatory neurons, steering neuronal circuits towards epilepsy.AbstractAn exome-based diagnostic panel in an infant with epilepsy revealed a previously unreported de novo missense variant in KCNA2, which encodes voltage-gated K+ channel KV 1.2. This variant causes substitution F302L, in helix S4 of the KV 1.2 voltage-sensing domain (VSD). F302L does not affect KCNA2 subunit membrane trafficking. However, it does alter channel functional properties, accelerating channel opening at more hyperpolarized membrane potentials, indicating gain of function. F302L also caused loss of KV 1.2 function via accelerated inactivation onset, decelerated recovery and shifted inactivation voltage dependence to more negative potentials. These effects, which are not fully rescued by coexpression of wild-type and mutant KCNA2 subunits, probably result from the enhancement of VSD function, as demonstrated by optically tracking VSD depolarization-evoked conformational rearrangements. In turn, molecular dynamics simulations suggest altered VSD exposure to membrane lipids. Compared to other encephalopathy patients with KCNA2 mutations, the proband exhibits mild neurological impairment, more characteristic of patients with KCNA2 loss of function. Based on this information, we propose a mechanism of epileptogenesis based on enhanced KV 1.2 inactivation leading to increased synaptic release preferentially in excitatory neurons, and hence the perturbation of the excitatory/inhibitory balance of neuronal circuits.

Published
2020

5. Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants

Author

Allen, James P, primary, Garber, Kathryn B, additional, Perszyk, Riley, additional, Khayat, Cara T, additional, Kell, Steven A, additional, Kaneko, Maki, additional, Quindipan, Catherine, additional, Saitta, Sulagna, additional, Ladda, Roger L, additional, Hewson, Stacy, additional, Inbar-Feigenberg, Michal, additional, Prasad, Chitra, additional, Prasad, Asuri N, additional, Olewiler, Leah, additional, Mu, Weiyi, additional, Rosenthal, Liana S, additional, Scala, Marcello, additional, Striano, Pasquale, additional, Zara, Federico, additional, McCullock, Tyler W, additional, Jauss, Robin-Tobias, additional, Lemke, Johannes R, additional, MacLean, David M, additional, Zhu, Cheng, additional, Yuan, Hongjie, additional, Myers, Scott J, additional, and Traynelis, Stephen F, additional

Published
2023
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7. TUBB4A de novo mutations cause isolated hypomyelination

Author

Pizzino, Amy, Pierson, Tyler Mark, Guo, Yiran, Helman, Guy, Fortini, Sebastian, Guerrero, Kether, Saitta, Sulagna, Murphy, Jennifer Louise Patrick, Padiath, Quasar, Xie, Yi, Hakonarson, Hakon, Xu, Xun, Funari, Tara, Fox, Michelle, Taft, Ryan J, van der Knaap, Marjo S, Bernard, Geneviève, Schiffmann, Raphael, Simons, Cas, and Vanderver, Adeline

Subjects
Pediatric, Congenital Structural Anomalies, Neurosciences, Brain Disorders, Genetics, Clinical Research, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adolescent, Atrophy, Basal Ganglia, Cerebellum, Child, Child, Preschool, Exome, Female, Hereditary Central Nervous System Demyelinating Diseases, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Phenotype, Registries, Tubulin, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery
Abstract

ObjectiveWe present a series of unrelated patients with isolated hypomyelination, with or without mild cerebellar atrophy, and de novo TUBB4A mutations.MethodsPatients in 2 large institutional review board-approved leukodystrophy bioregistries at Children's National Medical Center and Montreal Children's Hospital with similar MRI features had whole-exome sequencing performed. MRIs and clinical information were reviewed.ResultsFive patients who presented with hypomyelination without the classic basal ganglia abnormalities were found to have novel TUBB4A mutations through whole-exome sequencing. Clinical and imaging characteristics were reviewed suggesting a spectrum of clinical manifestations.ConclusionHypomyelinating leukodystrophies remain a diagnostic challenge with a large percentage of unresolved cases. This finding expands the phenotype of TUBB4A-related hypomyelinating conditions beyond hypomyelination with atrophy of the basal ganglia and cerebellum. TUBB4A mutation screening should be considered in cases of isolated hypomyelination or hypomyelination with nonspecific cerebellar atrophy.

Published
2014

8. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Author

Kaiser, Frank J, Ansari, Morad, Braunholz, Diana, Concepción Gil-Rodríguez, María, Decroos, Christophe, Wilde, Jonathan J, Fincher, Christopher T, Kaur, Maninder, Bando, Masashige, Amor, David J, Atwal, Paldeep S, Bahlo, Melanie, Bowman, Christine M, Bradley, Jacquelyn J, Brunner, Han G, Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A, Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C, Francey, Lauren J, Gehlken, Ulrike, Guillén-Navarro, Encarna, Gyftodimou, Yolanda, Hall, Bryan D, Hennekam, Raoul, Hudgins, Louanne, Hullings, Melanie, Hunter, Jennifer M, Yntema, Helger, Innes, A Micheil, Kline, Antonie D, Krumina, Zita, Lee, Hane, Leppig, Kathleen, Lynch, Sally Ann, Mallozzi, Mark B, Mannini, Linda, McKee, Shane, Mehta, Sarju G, Micule, Ieva, Care4Rare Canada Consortium, Mohammed, Shehla, Moran, Ellen, Mortier, Geert R, Moser, Joe-Ann S, Noon, Sarah E, Nozaki, Naohito, Nunes, Luis, Pappas, John G, Penney, Lynette S, Pérez-Aytés, Antonio, Petersen, Michael B, Puisac, Beatriz, Revencu, Nicole, Roeder, Elizabeth, Saitta, Sulagna, Scheuerle, Angela E, Schindeler, Karen L, Siu, Victoria M, Stark, Zornitza, Strom, Samuel P, Thiese, Heidi, Vater, Inga, Willems, Patrick, Williamson, Kathleen, Wilson, Louise C, University of Washington Center for Mendelian Genomics, Hakonarson, Hakon, Quintero-Rivera, Fabiola, Wierzba, Jolanta, Musio, Antonio, Gillessen-Kaesbach, Gabriele, Ramos, Feliciano J, Jackson, Laird G, Shirahige, Katsuhiko, Pié, Juan, Christianson, David W, Krantz, Ian D, Fitzpatrick, David R, and Deardorff, Matthew A

Subjects
Care4Rare Canada Consortium, University of Washington Center for Mendelian Genomics, Humans, Hypertelorism, De Lange Syndrome, Eye Abnormalities, Histone Deacetylases, Repressor Proteins, Cohort Studies, Sequence Alignment, Amino Acid Sequence, Phenotype, Mutation, Missense, Molecular Sequence Data, Child, Child, Preschool, Infant, Female, Male, Genes, X-Linked, Cranial Fontanelles, Genetics, Rare Diseases, Dental/Oral and Craniofacial Disease, Intellectual and Developmental Disabilities (IDD), Pediatric, Brain Disorders, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Aetiology, Congenital, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory protein, account for >80% of cases with typical facies. Mutations in the core cohesin complex proteins, encoded by the SMC1A, SMC3 and RAD21 genes, together account for ∼5% of subjects, often with atypical CdLS features. Recently, we identified mutations in the X-linked gene HDAC8 as the cause of a small number of CdLS cases. Here, we report a cohort of 38 individuals with an emerging spectrum of features caused by HDAC8 mutations. For several individuals, the diagnosis of CdLS was not considered prior to genomic testing. Most mutations identified are missense and de novo. Many cases are heterozygous females, each with marked skewing of X-inactivation in peripheral blood DNA. We also identified eight hemizygous males who are more severely affected. The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of the eyelids, a broader nose and dental anomalies, which may be useful discriminating features. HDAC8 encodes the lysine deacetylase for the cohesin subunit SMC3 and analysis of the functional consequences of the missense mutations indicates that all cause a loss of enzymatic function. These data demonstrate that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS.

Published
2014

9. The Role of Preprocedure Genetic Counseling in Pregnancies Interrupted for Fetal Abnormalities.

Author

Francoeur, Alex A., Kang, Sung-Hae L., Senaratne, T. Niroshi, Saitta, Sulagna, Murali, Aparna, Peters, Katharine, Hansman, Emily, Chen, Angela, Parvataneni, Ram, Patil, Rajita, Rible, Radhika, Sridhar, Aparna, Stoddard, Amy, Zapata, Mya, Krakow, Deborah, and Pluym, Ilina D.

Subjects
PREOPERATIVE care, ANEUPLOIDY, MULTIVARIATE analysis, ABORTION, GENETIC testing, RETROSPECTIVE studies, ACQUISITION of data, COMPARATIVE studies, MEDICAL records, DESCRIPTIVE statistics, GENETIC counseling, FETAL abnormalities, LOGISTIC regression analysis, ROUTINE diagnostic tests, ODDS ratio, LONGITUDINAL method
Abstract

Objective Congenital birth defects affect 3 to 5% of pregnancies. Genetic counseling can help patients navigate the testing process and understand results. The study objective was to identify predictors and utility of genetic counseling at the time of pregnancy termination. Additionally, we aimed to see what proportion of patients would benefit from additional testing based on the results of the genetic testing. Study Design This was a retrospective cohort review of all terminations performed for fetal anomalies by an academic center from July 2016 to May 2020. Indications were stratified by abnormal serum screening or types of abnormal ultrasound findings. Data were abstracted regarding uptake of genetic counseling and testing results. Abnormal results that warranted additional testing regarding recurrence risks were noted. Multivariable logistic regression was performed to identify predictors of receipt of genetic counseling and testing. Results Of 387 patients, 57% (n = 220) received preprocedure genetic counseling and 43% (n = 167) did not. Among patients who received diagnostic testing, 62% (n = 194) had genetic counseling compared with 38% (n = 121) without counseling (adjusted odds ratio 2.46, 95% confidence interval [1.41–4.29], p < 0.001). Among the entire cohort, 38% (n = 148) had suspected aneuploidy based on serum screening. Of these, 89% (n = 132/148) had definitive testing, 92% (n = 122/132) confirming the aneuploidy. Among the other 68% (n = 239) with structural anomalies, 76% (n = 183) had diagnostic testing with 29% (n = 53) yielding an abnormal result. Among those fetuses with structural anomalies, 36% (n = 19/53) of genetic diagnoses warranted additional parental testing because of risk of recurrence compared with only 2% (n = 2/122) of patients with abnormal serum screening results alone. Conclusion Genetic counseling was associated with increased uptake of diagnostic testing, which yielded useful information and prompted additional testing. This is important for determining etiology and recurrence risk and should be offered to patients presenting for termination for fetal indications, as well as providing diagnostic closure for patients. Key Points Genetic counseling increases the uptake of diagnostic testing in patients with fetal anomalies. Patients with ultrasound anomalies received less diagnostic testing despite actionable results 36% of the time. Genetic testing is invaluable for recurrence risk counseling even if patients chose to terminate. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.

Author

Allen, James P, Garber, Kathryn B, Perszyk, Riley, Khayat, Cara T, Kell, Steven A, Kaneko, Maki, Quindipan, Catherine, Saitta, Sulagna, Ladda, Roger L, Hewson, Stacy, Inbar-Feigenberg, Michal, Prasad, Chitra, Prasad, Asuri N, Olewiler, Leah, Mu, Weiyi, Rosenthal, Liana S, Scala, Marcello, Striano, Pasquale, Zara, Federico, and McCullock, Tyler W

Published
2024
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11. Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing

Author

Chen, Elaine, primary, Facio, Flavia M., additional, Aradhya, Kerry W., additional, Rojahn, Susan, additional, Hatchell, Kathryn E., additional, Aguilar, Sienna, additional, Ouyang, Karen, additional, Saitta, Sulagna, additional, Hanson-Kwan, Andrea K., additional, Capurro, Nicole Nakousi, additional, Takamine, Eriko, additional, Jamuar, Saumya Shekhar, additional, McKnight, Dianalee, additional, Johnson, Britt, additional, and Aradhya, Swaroop, additional

Published
2023
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12. An unusual presentation of bilateral optic pathway glioma in Crouzon Syndrome.

Author

Na, Brian, Wang, Anthony C., Watterson, Christopher Travis, Martinez-Agosto, Julian, Saitta, Sulagna, Dutra-Clarke, Marina, Bhansali, Franceska, Pineles, Stacy L., Chang, Vivian Y., Shah, Veeral S., and de Blank, Peter

Subjects
NEUROFIBROMATOSIS 1, GLIOMAS, OPTIC nerve, VISUAL pathways, SYNDROMES, GENETIC disorders
Abstract

Crouzon Syndrome is a genetic craniosynostosis disorder associated with a high risk of ophthalmologic sequelae secondary to structural causes. However, ophthalmologic disorders due to intrinsic nerve aberrations in Crouzon Syndrome have not been described. Optic pathway gliomas (OPGs) are low grade gliomas that are intrinsic to the visual pathway, frequently associated with Neurofibromatosis type 1 (NF-1). OPGs involving both optic nerves without affecting the optic chiasm are rarely seen outside of NF-1. We report an unusual case of bilateral optic nerve glioma without chiasmatic involvement in a 17-month-old male patient with Crouzon Syndrome without any clinical or genetic findings of NF-1. This case suggests that close ophthalmologic follow up and orbital MRIs may benefit patients with Crouzon Syndrome. [ABSTRACT FROM AUTHOR]

Published
2023
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13. Identification of a novel polymorphism—the duplication of the NPHP1 (nephronophthisis 1) gene

Author

Baris, Hagit, Bejjani, Bassem A, Tan, Wen‐Hann, Coulter, David L, Martin, Judith A, Storm, Andrea L, Burton, Barbara K, Saitta, Sulagna C, Gajecka, Marzena, Ballif, Blake C, Irons, Mira B, Shaffer, Lisa G, and Kimonis, Virginia E

Subjects
Adaptor Proteins, Signal Transducing, Child, Child, Preschool, Chromosomes, Human, Pair 2, Cytoskeletal Proteins, Developmental Disabilities, Female, Gene Duplication, Humans, In Situ Hybridization, Fluorescence, Infant, Male, Membrane Proteins, Polymorphism, Genetic, Proteins, Speech Disorders, Genetics, Clinical Sciences
Published
2006

15. Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals

Author

Truty, Rebecca, primary, Rojahn, Susan, additional, Ouyang, Karen, additional, Kautzer, Curtis, additional, Kennemer, Michael, additional, Pineda-Alvarez, Daniel, additional, Johnson, Britt, additional, Stafford, Amanda, additional, Basel-Salmon, Lina, additional, Saitta, Sulagna, additional, Slavotinek, Anne, additional, Chandrasekharappa, Settara C., additional, Suarez, Carlos Jose, additional, Burnett, Leslie, additional, Nussbaum, Robert L., additional, and Aradhya, Swaroop, additional

Published
2023
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16. Contributors

Author

Abman, Steven H., primary, Allegaert, Karel, additional, Arya, Bhawna, additional, Askenazi, David, additional, Azhibekov, Timur, additional, Back, Stephen A., additional, Baldwin, H. Scott, additional, Ballard, Roberta A., additional, Bancalari, Eduardo, additional, Bates, Carlton M., additional, Batra, Maneesh, additional, Bayart, Cheryl B., additional, Bellus, Gary A., additional, Benedetti, Thomas J., additional, Benjamin, John T., additional, Bennett, James T., additional, Berry, Gerard T., additional, Binenbaum, Gil, additional, Boos, Markus D., additional, Bouchard, Maryse, additional, Brandling-Bennett, Heather A., additional, Broughton, Darcy E., additional, Brown, Zane, additional, Campbell, Katherine H., additional, Carmichael, Suzan L., additional, Carter, Brian S., additional, Cederbaum, Stephen, additional, Chabra, Shilpi, additional, Chang, Justine, additional, Cheng, Edith Y., additional, Chisholm, Karen M., additional, Christensen, Robert D., additional, Chun, Terrence, additional, Claure, Nelson, additional, Clyman, Ronald I., additional, Colaizy, Tarah T., additional, Cortezzo, DonnaMaria E., additional, Cotten, C. Michael, additional, Cunningham, Michael L., additional, de Alba Campomanes, Alejandra G., additional, Dees, Ellen, additional, DeMauro, Sara B., additional, Denne, Scott C., additional, Deschmann, Emöke, additional, Cecilia, Carolina, additional, DiBlasi, Robert M., additional, Dimmitt, Reed A., additional, DiVall, Sara A., additional, Djahangirian, Orchid, additional, Doherty, Dan, additional, Eichenwald, Eric C., additional, Engen, Rachel, additional, Engmann, Cyril, additional, Evans, Jacquelyn R., additional, Evans, Kelly N., additional, Farmer, Diana L., additional, Fechner, Patricia Y., additional, Ferrieri, Patricia, additional, Finer, Neil N., additional, Fleishman, Rachel A., additional, Fleiss, Bobbi, additional, Flynn, Joseph T., additional, Flynn-O'Brien, Katherine T., additional, Frey, Mark R., additional, Furman, Lydia, additional, Gallagher, Renata C., additional, Gauda, Estelle B., additional, Gleason, Christine A., additional, Goldberg, Michael J., additional, Goldin, Adam B., additional, Gospe, Sidney M., additional, Gressens, Pierre, additional, Gupta, Deepti, additional, Guttentag, Susan H., additional, Haldeman-Englert, Chad R., additional, Hansen, Thomas N., additional, Hing, Anne V., additional, Hingorani, Sangeeta, additional, Hintz, Susan R., additional, Hirose, Shinjiro, additional, Hodson, W. Alan, additional, Hoppe, Kara K., additional, Hostetter, Margaret K., additional, Huang, Benjamin, additional, Huang, Sarah Bauer, additional, Inder, Terrie E., additional, Inoita, Cristian, additional, Jackson, J. Craig, additional, Jain, Deepak, additional, Jain, Lucky, additional, Javid, Patrick J., additional, Josephson, Cassandra D., additional, Jungheim, Emily S., additional, Juul, Sandra E., additional, Katheria, Anup, additional, Keller, Benjamin A., additional, Keller, Roberta L., additional, Kelly, Thomas F., additional, Khorsand, Kate, additional, Kim, Grace, additional, Kinsella, John P., additional, Koves, Ildiko H., additional, Lam, Christina, additional, Lane, Erin R., additional, Lantos, John D., additional, Ledbetter, Daniel J., additional, Lee, Ben, additional, Levy, Harvey L., additional, Levy, Ofer, additional, Lewin, Mark B., additional, Lewis, David B., additional, Lin, P. Ling, additional, Lin, Tiffany Fangtse, additional, Lorch, Scott A., additional, Maheshwari, Akhil, additional, Maltepe, Emin, additional, Marsh, Ketzela J., additional, Martin, Richard J., additional, Mayock, Dennis E., additional, McAdams, Ryan Michael, additional, McAleer, Irene, additional, McElroy, Steven J., additional, McNelis, Kera M., additional, McQuillen, Patrick, additional, Meadow, William L., additional, Merguerian, Paul A., additional, Merjaneh, Lina, additional, Merritt, J. Lawrence, additional, Mezger, Valerie, additional, Michaels, Marian G., additional, Miller, Steven P., additional, Mohan, Sowmya S., additional, Mollen, Thomas J., additional, Moore, Thomas R., additional, Murray, Jeffrey C., additional, Murray, Karen F., additional, Nandi-Munshi, Debika, additional, Natarajan, Niranjana, additional, Neil, Jeffrey J., additional, Ness, Kathryn D., additional, Neu, Josef, additional, Siu-Ying, Angel, additional, Noori, Shahab, additional, O'Mahony, Lila, additional, Palma, Jonathan P., additional, Paneth, Nigel, additional, Parker, Thomas A., additional, Patel, Ravi Mangal, additional, Penn, Anna A., additional, Pettker, Christian M., additional, Peyvandi, Shabnam, additional, Pihoker, Cate, additional, Plosa, Erin, additional, Poindexter, Brenda B., additional, Posencheg, Michael A., additional, Reinking, Benjamin E., additional, Rice-Townsend, Samuel, additional, Richards, Morgan K., additional, Richardson, C. Peter, additional, Richardson, Kelsey, additional, Riggle, Kevin M., additional, Robbins, Elizabeth, additional, Rollins, Mark D., additional, Rosen, Mark A., additional, Rowe, Courtney K., additional, Sahai, Inderneel, additional, Saitta, Sulagna C., additional, Salehi, Parisa, additional, Sanchez, Pablo, additional, Saxonhouse, Matthew A., additional, Schanler, Richard J., additional, Schleiss, Mark R., additional, Scholz, Thomas, additional, Schwaderer, Andrew L., additional, Selewski, David, additional, Sellers, Zachary M., additional, Seri, Istvan, additional, Shnorhavorian, Margarett, additional, Sibley, Eric, additional, Sidbury, Robert, additional, Simmons, Rebecca, additional, Smith, Caitlin, additional, Sola-Visner, Martha C., additional, Srinivasan, Lakshmi, additional, Steinhorn, Robin H., additional, Stevenson, David K., additional, Stolp, Helen, additional, Taplin, Craig, additional, Tarczy-Hornoch, Peter, additional, Taylor, James A., additional, Thomas, Janet A., additional, Thompson, Tracy, additional, Tiller, George E., additional, Torres, Benjamin A., additional, Traudt, Christopher Michael, additional, van den Anker, John N., additional, Vernon, Margaret M., additional, Vohr, Betty, additional, Walker, Valencia P., additional, Wallen, Linda D., additional, Wallenstein, Matthew B., additional, Wang, Peter (Zhan Tao), additional, Warady, Bradley A., additional, Ward, Robert M., additional, Watchko, Jon F., additional, Wehbi, Elias, additional, Weitkamp, Joern-Hendrik, additional, Werny, David, additional, White, Klane K., additional, Willig, Laurel, additional, Woodrum, David, additional, Woodward, George A., additional, Wright, Clyde J., additional, Wright, Jeffrey A., additional, Yonekawa, Karyn, additional, and Zackai, Elaine H., additional

Published
2018
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21. Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care

Author

Pirozzi, Filomena, primary, Berkseth, Matthew, additional, Shear, Rylee, additional, Gonzalez, Lorenzo, additional, Timms, Andrew E, additional, Sulc, Josef, additional, Pao, Emily, additional, Oyama, Nora, additional, Forzano, Francesca, additional, Conti, Valerio, additional, Guerrini, Renzo, additional, Doherty, Emily S, additional, Saitta, Sulagna C, additional, Lockwood, Christina M, additional, Pritchard, Colin C, additional, Dobyns, William B, additional, Novotny, Edward, additional, Wright, Jason N N, additional, Saneto, Russell P, additional, Friedman, Seth, additional, Hauptman, Jason, additional, Ojemann, Jeffrey, additional, Kapur, Raj P, additional, and Mirzaa, Ghayda M, additional

Published
2022
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25. Contributors

Author

Abman, Steven H., Ali, Noorjahan, Allegaert, Karel, Anderson, Jamie E., Ansah, Deidra A., Arya, Bhawna, Askenazi, David, Aucott, Susan W., Back, Stephen A., Baer, Gerri R., Baldwin, H. Scott, Ballas, Jerasimos, Batra, Maneesh, Bayart, Cheryl, Bellus, Gary A., Benjamin, John T., Berry, Gerard T., Billimoria, Zeenia C., Binenbaum, Gil, Blessing, Matthew S., Boos, Markus D., Bosse, Brad, Bouchard, Maryse L., Brandling-Bennett, Heather A., Brown, Colleen, Brown, Erin G., Campbell, Katherine H., Carlberg, Katie, Carter, Brian S., Chabra, Shilpi, Chang, Irene J., Cheng, Edith Y., Chiang, Kai-wen, Christensen, Robert D., Chun, Terrence, Clyman, Ronald I., Cortezzo, Donna, Maria E., Cotten, C.M., Courtney, Sherry E., Davis, Jonathan M., de Alba Campomanes, Alejandra G., Dean, Benjamin, Dees, Ellen, De, Mauro, Sara B., Denne, Scott C., Deschmann, Emöke, Di Blasi, Carolina Cecilia, Di, Vall, Sara A., Doherty, Dan, Durand, David J., Dyess, Nicolle Fernández, Eichenwald, Eric C., Eitel, Kelsey B., Engen, Rachel M., Evans, Kelly N., Farmer, Diana L., Fay, Emily, Fechner, Patricia Y., Fleishman, Rachel, Fleiss, Bobbi, Flynn, Joseph, Jr., Flynn-O’Brien, Katherine T., Kyle Fulton, G., Gallagher, Renata C., Gauda, Estelle B., Christopher Golden, W., Gontasz, Michelle M., Estévez, Natasha González, Gospe, Sidney M., Jr., Gressens, Pierre, Gupta, Deepti, Hingorani, Sangeeta, Hinson, Ashley P., Hintz, Susan R., Alan Hodson, W., Hoppe, Kara K., Huang, Alyssa, Huang, Benjamin, Huen, Kathy, Huff, Katie A., Ionita, Cristian, Craig Jackson, J., Jackson, Jordan E., Jaksic, Tom, Javid, Patrick J., Johnson, Julia, Josephson, Cassandra D., Jungheim, Emily S., Juul, Sandra E., Kabbany, Mohammad Nasser, Karpen, Heidi, Keefe, Gregory, Keene, Jennifer C., Keiser, Amaris M., Keller, Roberta L., Kelly, Thomas F., Khorsand, Kate, Kim, Grace, Kinsella, John P., Komorowski, Allison S., Koves, Ildiko H., Lagatta, Joanne M., Lakshminrusimha, Satyan, Lam, Christina, Lantos, John D., Law, Janessa B., Lee, Su Yeon, Levy, Ofer, Lewis, David B., Lin, Philana Ling, Lorch, Scott A., Lucas, Tiffany L., Maheshwari, Akhil, Maltepe, Emin, Mandell, Erica, Manimtim, Winston M., Martin, Richard J., Mayock, Dennis E., Mc, Aleer, Irene, McQuillen, Patrick, Melvin, Ann J., Merguerian, Paul A., Merjaneh, Lina, Lawrence Merritt, J., Mezger, Valerie, Michaels, Marian G., Mietzsch, Ulrike, Miller, Steven P., Moore, Thomas R., Murray, Karen F., Nandi-Munshi, Debika, Natarajan, Niranjana, Ness, Kathryn D., Neu, Josef, Noori, Shahab, O’Shea, Thomas Michael, Jr., Oatts, Julius T., Paneth, Nigel, Parker, Thomas A., Patel, Ravi Mangal, Patel, Simran, Penn, Anna A., Pettker, Christian M., Peyvandi, Shabnam, Pihoker, Catherine, Plosa, Erin, Poindexter, Brenda, Posencheg, Michael A., Puia-Dumitrescu, Mihai, Cardona, Vilmaris Quiñones, Rice-Townsend, Samuel E., Riddle, Art, Robbins, Elizabeth, Rollins, Mark D., Rosen, Mark A., Rowe, Courtney K., Sahai, Inderneel, Saitta, Sulagna C., Salehi, Parisa, Sanchez, Pablo J., Sawyer, Taylor, Saxonhouse, Matthew A., Schroeder, Katherine M., Selewski, David T., Niroshi Senaratne, T., Seri, Istvan, Sharpe, Emily E., Sheppard, Sarah E., Shnorhavorian, Margarett, Sidbury, Robert, Simmons, La, Vone, Simmons, Rebecca A., Singh, Rachana, Sola-Visner, Martha C., Srinivasan, Lakshmi, Steflik, Heidi J., Steinhorn, Robin H., Stokes, Caleb, Stolp, Helen, Sucre, Jennifer, Sun, Angela, Taha, Dalal K., Tenney, Jessica, Thomas, Janet A., Tiller, George E., Torres, Benjamin A., Truog, William E., Upadhyay, Kirtikumar, Valentine, Gregory C., van den Anker, John N., Vohr, Betty, Wallen, Linda D., Wang, Peter (Zhan Tao), Warady, Bradley A., Ward, Robert M., Watchko, Jon F., Wehbi, Elias, Weitkamp, Joern-Hendrik, Werny, David, White, Klane K., Taylor Wild, K., Wiley, Susan, Willig, Laurel, Woodward, George A., Wright, Clyde J., Yonekawa, Karyn, Yu, Elizabeth, and Zackai, Elaine H.

Published
2024
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26. Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients

Author

Zollino, Marcella, Marangi, Giuseppe, Ponzi, Emanuela, Orteschi, Daniela, Ricciardi, Stefania, Lattante, Serena, Murdolo, Marina, Battaglia, Domenica, Contaldo, Ilaria, Mercuri, Eugenio, Stefanini, Maria Chiara, Caumes, Roseline, Edery, Patrick, Rossi, Massimiliano, Piccione, Maria, Corsello, Giovanni, Della Monica, Matteo, Scarano, Francesca, Priolo, Manuela, Gentile, Mattia, Zampino, Giuseppe, Vijzelaar, Raymon, Abdulrahman, Omar, Rauch, Anita, Oneda, Beatrice, Deardorff, Matthew A, Saitta, Sulagna C, Falk, Marni J, Dubbs, Holly, and Zackai, Elaine

Published
2015
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28. Analysis of common PI3K-AKT-MTOR mutations in pediatric surgical epilepsy by droplet digital PCR reveals novel clinical and molecular insights

Author

Pirozzi, Filomena, primary, Berkseth, Matthew, additional, Shear, Rylee, additional, Gonzalez, Lorenzo, additional, Timms, Andrew E., additional, Sulc, Josef, additional, Pao, Emily, additional, Oyama, Nora, additional, Forzano, Francesca, additional, Conti, Valerio, additional, Guerrini, Renzo, additional, Doherty, Emily S., additional, Saitta, Sulagna C., additional, Dobyns, William B., additional, Novotny, Edward, additional, Wright, Jason N.N., additional, Saneto, Russell P., additional, Friedman, Seth, additional, Hauptman, Jason, additional, Ojemann, Jeffrey, additional, Kapur, Raj P., additional, and Mirzaa, Ghayda M., additional

Published
2021
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30. Tracking the motion of the KV 1.2 voltage sensor reveals the molecular perturbations caused by a de novo mutation in a case of epilepsy

Author

Pantazis, Antonios, Kaneko, Maki, Angelini, Marina, Steccanella, Federica, Westerlund, Annie M, Lindström, Sarah H, Nilsson, Michelle, Delemotte, Lucie, Saitta, Sulagna C, and Olcese, Riccardo

Subjects
Brain Diseases, Epilepsy, Physiology, gain of function, fluorometry, Neurosciences, Neurodegenerative, Biological Sciences, Medical and Health Sciences, molecular dynamics, Membrane Potentials, Brain Disorders, channelopathy, Amino Acid Substitution, loss of function, Mutation, Neurological, Humans, 2.1 Biological and endogenous factors, Aetiology, potassium channel
Abstract

Key pointsKV 1.2 channels, encoded by the KCNA2 gene, regulate neuronal excitability by conducting K+ upon depolarization. A new KCNA2 missense variant was discovered in a patient with epilepsy, causing amino acid substitution F302L at helix S4, in the KV 1.2 voltage-sensing domain. Immunocytochemistry and flow cytometry showed that F302L does not impair KCNA2 subunit surface trafficking. Molecular dynamics simulations indicated that F302L alters the exposure of S4 residues to membrane lipids. Voltage clamp fluorometry revealed that the voltage-sensing domain of KV 1.2-F302L channels is more sensitive to depolarization. Accordingly, KV 1.2-F302L channels opened faster and at more negative potentials; however, they also exhibited enhanced inactivation: that is, F302L causes both gain- and loss-of-function effects. Coexpression of KCNA2-WT and -F302L did not fully rescue these effects. The proband's symptoms are more characteristic of patients with loss of KCNA2 function. Enhanced KV 1.2 inactivation could lead to increased synaptic release in excitatory neurons, steering neuronal circuits towards epilepsy.AbstractAn exome-based diagnostic panel in an infant with epilepsy revealed a previously unreported de novo missense variant in KCNA2, which encodes voltage-gated K+ channel KV 1.2. This variant causes substitution F302L, in helix S4 of the KV 1.2 voltage-sensing domain (VSD). F302L does not affect KCNA2 subunit membrane trafficking. However, it does alter channel functional properties, accelerating channel opening at more hyperpolarized membrane potentials, indicating gain of function. F302L also caused loss of KV 1.2 function via accelerated inactivation onset, decelerated recovery and shifted inactivation voltage dependence to more negative potentials. These effects, which are not fully rescued by coexpression of wild-type and mutant KCNA2 subunits, probably result from the enhancement of VSD function, as demonstrated by optically tracking VSD depolarization-evoked conformational rearrangements. In turn, molecular dynamics simulations suggest altered VSD exposure to membrane lipids. Compared to other encephalopathy patients with KCNA2 mutations, the proband exhibits mild neurological impairment, more characteristic of patients with KCNA2 loss of function. Based on this information, we propose a mechanism of epileptogenesis based on enhanced KV 1.2 inactivation leading to increased synaptic release preferentially in excitatory neurons, and hence the perturbation of the excitatory/inhibitory balance of neuronal circuits.

Published
2020

31. Tracking the motion of the K(V)1.2 voltage sensor reveals the molecular perturbations caused by ade novomutation in a case of epilepsy

Author

Pantazis, Antonios, Kaneko, Maki, Angelini, Marina, Steccanella, Federica, Westerlund, Annie M., Lindström, Sarah, Nilsson, Michelle, Delemotte, Lucie, Saitta, Sulagna C., Olcese, Riccardo, Pantazis, Antonios, Kaneko, Maki, Angelini, Marina, Steccanella, Federica, Westerlund, Annie M., Lindström, Sarah, Nilsson, Michelle, Delemotte, Lucie, Saitta, Sulagna C., and Olcese, Riccardo

Abstract

Key points K(V)1.2 channels, encoded by theKCNA2gene, regulate neuronal excitability by conducting K(+)upon depolarization. A newKCNA2missense variant was discovered in a patient with epilepsy, causing amino acid substitution F302L at helix S4, in the K(V)1.2 voltage-sensing domain. Immunocytochemistry and flow cytometry showed that F302L does not impair KCNA2 subunit surface trafficking. Molecular dynamics simulations indicated that F302L alters the exposure of S4 residues to membrane lipids. Voltage clamp fluorometry revealed that the voltage-sensing domain of K(V)1.2-F302L channels is more sensitive to depolarization. Accordingly, K(V)1.2-F302L channels opened faster and at more negative potentials; however, they also exhibited enhanced inactivation: that is, F302L causes both gain- and loss-of-function effects. Coexpression of KCNA2-WT and -F302L did not fully rescue these effects. The probands symptoms are more characteristic of patients with loss ofKCNA2function. Enhanced K(V)1.2 inactivation could lead to increased synaptic release in excitatory neurons, steering neuronal circuits towards epilepsy. An exome-based diagnostic panel in an infant with epilepsy revealed a previously unreportedde novomissense variant inKCNA2, which encodes voltage-gated K(+)channel K(V)1.2. This variant causes substitution F302L, in helix S4 of the K(V)1.2 voltage-sensing domain (VSD). F302L does not affect KCNA2 subunit membrane trafficking. However, it does alter channel functional properties, accelerating channel opening at more hyperpolarized membrane potentials, indicating gain of function. F302L also caused loss of K(V)1.2 function via accelerated inactivation onset, decelerated recovery and shifted inactivation voltage dependence to more negative potentials. These effects, which are not fully rescued by coexpression of wild-type and mutant KCNA2 subunits, probably result from the enhancement of VSD function, as demonstrated by optically tracking VSD depolarization-evoked con, Funding Agencies|NIH/NHLBIUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Heart Lung & Blood Institute (NHLBI) [R01HL134346]; NIH/NIGMSUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of General Medical Sciences (NIGMS) [R35GM131896]; American Heart Association (National Centre)American Heart Association [14SDG20300018, 17POST33670046]; Knut and Alice Wallenberg FoundationKnut & Alice Wallenberg Foundation; Science for Life Laboratory

Published
2020
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32. Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care

Author

Quindipan, Catherine, primary, Cotter, Jennifer A., additional, Ji, Jianling, additional, Mitchell, Wendy G., additional, Moke, Diana J., additional, Navid, Fariba, additional, Thomas, Stefanie M., additional, VanHirtum-Das, Michele, additional, Wang, Larry, additional, Saitta, Sulagna C., additional, Biegel, Jaclyn A., additional, and Hiemenz, Matthew C., additional

Published
2021
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35. Contributors

Author

Abman, Steven H., primary, Ahmed, Amina, additional, Allen, Marilee C., additional, Askenazi, David, additional, Back, Stephen A., additional, Baldwin, H. Scott, additional, Ballard, Roberta A., additional, Bancalari, Eduardo, additional, Bates, Carlton M., additional, Batisky, Donald L., additional, Baumgart, Stephen, additional, Benedetti, Thomas J., additional, Berry, Gerard T., additional, Bianchi, Diana W., additional, Binenbaum, Gil, additional, Bollepalli, Sureka, additional, Bonifacio, Sonia L., additional, Cairo, Mitchell S., additional, Campbell, Katherine H., additional, Caplan, Michael, additional, Cederbaum, Stephen, additional, Chandra, Sudhish, additional, Chen, Ming, additional, Claure, Nelson, additional, Clyman, Ronald I., additional, Cohen, Bernard A., additional, Cole, F. Sessions, additional, Copelovitch, Lawrence, additional, Cunningham, Michael, additional, de Alba Campomanes, Alejandra G., additional, Dees, Ellen, additional, Denne, Scott C., additional, Devaskar, Sherin U., additional, DiBlasi, Robert M., additional, Dimmitt, Reed A., additional, Eichenwald, Eric C., additional, Eisenstein, Eli M., additional, Evans, Jacquelyn R., additional, Evans, Kelly, additional, Farmer, Diana L., additional, Ferrieri, Patricia, additional, Ferriero, Donna M., additional, Finer, Neil N., additional, Fraga, Maria Victoria, additional, Furman, Lydia, additional, Furth, Susan, additional, Gauda, Estelle B., additional, Glader, Bertil, additional, Gleason, Christine A., additional, Goldberg, Michael J., additional, Gonzalez, Fernando, additional, Gopalani, Sameer, additional, Grant, P. Ellen, additional, Greene, Carol L., additional, Guevara-Gallardo, Salvador, additional, Guignard, Jean-Pierre, additional, Guttentag, Susan, additional, Haldeman-Englert, Chad R., additional, Hansen, Thomas, additional, Hing, Anne V., additional, Hohimer, A. Roger, additional, Hostetter, Margaret K., additional, Hull, Andrew D., additional, Jackson, J. Craig, additional, Jain, Lucky, additional, Jain, Vandana, additional, Janjua, Halima Saadia, additional, Juul, Sandra E., additional, Kalkunte, Satyan, additional, Kaplan, Bernard S., additional, Keller, Roberta L., additional, Kelly, Thomas F., additional, Kern, Steven E., additional, Kerkar, Nanda, additional, Kinsella, John P., additional, Kirsch, Roxanne, additional, Kleinman, Monica E., additional, Klitzner, Thomas S., additional, Lambert, Sarah M., additional, Lantos, John D., additional, Leone, Tina A., additional, Leppert, Mary, additional, Levy, Harvey L., additional, Lewin, Mark, additional, Lin-Su, Karen, additional, L. Loh, Mignon, additional, Lorch, Scott A., additional, Lugo, Ralph A., additional, Mai, Volker, additional, Marino, Bradley S., additional, Markovitz, Barry, additional, Marquard, Kerri, additional, Martin, Camilia R., additional, Martin, Richard J., additional, Matthay, Katherine K., additional, Matthews, Dana C., additional, Mayock, Dennis E., additional, Meadow, William L., additional, Menon, Ram K., additional, Mercuri, Eugenio, additional, Mohan, Sowmya S., additional, Moley, Kelle, additional, Mollen, Thomas J., additional, Moore, Jeremy P., additional, Moore, Thomas R., additional, Munson, David A., additional, Murray, Jeffrey C., additional, Neu, Josef, additional, New, Maria I., additional, Nguyen-Vermillion, Annie, additional, Niklas, Victoria, additional, Nimkarn, Saroj, additional, Padbury, James F., additional, Pane, Marika, additional, Paneth, Nigel, additional, Parker, Thomas A., additional, Patterson, Janna C., additional, Pettker, Christian M., additional, Plawner, Lauren L., additional, Poenaru, Dan, additional, Poindexter, Brenda B., additional, Posencheg, Michael A., additional, Prabhu, Sanjay P., additional, Püttgen, Katherine B., additional, Quinn, Graham E., additional, Raju, Tonse N.K., additional, Ramos, Gladys A., additional, Reinking, Benjamin E., additional, Richardson, C. Peter, additional, Rimoin, David L., additional, Robbins, Elizabeth, additional, Robertson, Richard L., additional, Rollins, Mark D., additional, Rose, Susan R., additional, Rosen, Mark A., additional, Rubin, Lewis P., additional, Sahai, Inderneel, additional, Saitta, Sulagna C., additional, Sánchez, Pablo J., additional, Satou, Gary M., additional, Schanler, Richard J., additional, Scher, Mark S., additional, Schleiss, Mark R., additional, Scholz, Thomas D., additional, Schwaderer, Andrew L., additional, Seri, Istvan, additional, Sharma, Surendra, additional, Shereck, Evan B., additional, Sibley, Eric, additional, Signore, Caroline, additional, Simmons, Rebecca, additional, Smith, Jeffrey B., additional, Smith, Lorie B., additional, Song, Clara, additional, Steinhorn, Robin H., additional, Suchy, Frederick J., additional, Sulyok, Endre, additional, Tarczy-Hornoch, Peter, additional, Taylor, George A., additional, Taylor, James A., additional, Thomas, Janet A., additional, Tiller, George E., additional, Tran, Mark M., additional, Trautman, Michael Stone, additional, Upperman, Jeffrey S., additional, van de Ven, Carmella, additional, Vernon, Margaret M., additional, Allan Walker, W., additional, Wallen, Linda D., additional, Waller, Sarah A., additional, Warady, Bradley A., additional, Ward, Robert M., additional, Watchko, Jon F., additional, Wernovsky, Gil, additional, White, Klane K., additional, Williams, Calvin B., additional, Woodrum, David, additional, Woodward, George A., additional, Wright, Dakara Rucker, additional, Wright, Jeffrey A., additional, Wright, Linda L., additional, Young, Christopher M., additional, Young, Guy, additional, Zackai, Elaine H., additional, and Zderic, Stephen A., additional

Published
2012
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36. Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy

Author

Kalish, Jennifer M., Conlin, Laura K., Bhatti, Tricia R., Dubbs, Holly A., Harris, Mary Catherine, Izumi, Kosuke, Mostoufi-Moab, Sogol, Mulchandani, Surabhi, Saitta, Sulagna, States, Lisa J., Swarr, Daniel T., Wilkens, Alisha B., Zackai, Elaine H., Zelley, Kristin, Bartolomei, Marisa S., Nichols, Kim E., Palladino, Andrew A., Spinner, Nancy B., and Deardorff, Matthew A.

Published
2013
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38. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Author

Kortüm, Fanny, Das, Soma, Flindt, Max, Morris-Rosendahl, Deborah J, Stefanova, Irina, Goldstein, Amy, Horn, Denise, Klopocki, Eva, Kluger, Gerhard, Martin, Peter, Rauch, Anita, Roumer, Agathe, Saitta, Sulagna, Walsh, Laurence E, Wieczorek, Dagmar, Uyanik, Gökhan, Kutsche, Kerstin, and Dobyns, William B

Published
2011
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41. Tracking the motion of the KV1.2 voltage sensor reveals the molecular perturbations caused by ade novomutation in a case of epilepsy

Author

Pantazis, Antonios, primary, Kaneko, Maki, additional, Angelini, Marina, additional, Steccanella, Federica, additional, Westerlund, Annie M., additional, Lindström, Sarah H., additional, Nilsson, Michelle, additional, Delemotte, Lucie, additional, Saitta, Sulagna C., additional, and Olcese, Riccardo, additional

Published
2020
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44. Identification of familial and de novo microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region

Author

Coppinger, Justine, McDonald-McGinn, Donna, Zackai, Elaine, Shane, Kate, Atkin, Joan F., Asamoah, Alexander, Leland, Robert, Weaver, David D., Lansky-Shafer, Susan, Schmidt, Karen, Feldman, Heidi, Cohen, William, Phalin, Judy, Powell, Berkley, Ballif, Blake C., Theisen, Aaron, Geiger, Elizabeth, Haldeman-Englert, Chad, Shaikh, Tamim H., Saitta, Sulagna, Bejjani, Bassem A., and Shaffer, Lisa G.

Published
2009

47. Contributors

Author

Adams-Chapman, Ira, primary, Ades, Anne M., additional, Ahmed, Amina, additional, Albers, Simone, additional, Allen, Marilee C., additional, Andrew, Maureen, additional, Back, Stephen A., additional, Baldwin, H. Scott, additional, Ballard, Philip L., additional, Ballard, Roberta A., additional, Banks-Randall, Beverly A., additional, Baumgart, Stephen, additional, Beckerman, Karen P., additional, Benedetti, Thomas J., additional, Berry, Gerard T., additional, Berseth, Carol Lynn, additional, Bethin, Kathleen E., additional, Bianchi, Diana W., additional, Cairo, Mitchell S., additional, Caldamone, Anthony, additional, Chandra, Sudhish, additional, Chmait, Ramen, additional, Clyman, Ronald I., additional, Cohen, Bernard A., additional, Cohen, Meryl S., additional, Cohen, Mitchell I., additional, Cohn, Robert M., additional, Cole, F. Sessions, additional, Corbet, Anthony, additional, Denne, Scott C., additional, Di Maggio, Theresa J., additional, Eichenwald, Eric C., additional, Evans, Jacquelyn R., additional, Evans, Nick, additional, Fanaroff, Avroy A., additional, Ferriero, Donna M., additional, Fisher, Delbert A., additional, Flores-Sarnat, Laura, additional, Friedlich, Philippe S., additional, Gaynor, J. William, additional, Gest, Alfred L., additional, Geva, Tal, additional, Gibbons, Mary Ann E., additional, Gilbert, William M., additional, Glader, Bertil E., additional, Gleason, Christine A., additional, Goldberg, Michael J., additional, Good, William V., additional, Goodwin, Gregory, additional, Gopalani, Sameer, additional, Greene, Carol L., additional, Grottkau, Brian E., additional, Gruber, Peter J., additional, Guignard, Jean-Pierre, additional, Guttentag, Susan, additional, Hamrick, Shannon E.G., additional, Hansen, Thomas N., additional, Hostetter, Margaret K., additional, Hughes, Samuel C., additional, Hull, Andrew D., additional, Jedeikin, Roy, additional, Juul, Sandra E., additional, Kaplan, Bernard S., additional, Kaplan, Paige, additional, Kazin, Rebecca A., additional, Kelly, Thomas F., additional, Kuhle, Stefan, additional, Laing, Ian A., additional, Levy, Harvey L., additional, Loh, Mignon L., additional, Lorch, Scott A., additional, Lugo, Ralph A., additional, Machin, Geoffrey A., additional, MacMahon, James R., additional, Macones, George A., additional, Madan, Ashima, additional, Marino, Bradley S., additional, Martinez, Alma, additional, Maschoff, Kathryn L., additional, Massicotte, Patricia, additional, Matthay, Katherine K., additional, Mentzer, William C., additional, Merrill, Jeffrey D., additional, Miller, Carol A., additional, Mitchell, Lesley, additional, Moise, Alicia A., additional, Mollen, Thomas J., additional, Monahan, Timothy P., additional, Moore, Thomas R., additional, Muglia, Louis J., additional, Nelson, Robert M., additional, Newman, Thomas B., additional, Pallotto, Eugenia K., additional, Pan, Erica S., additional, Parravicini, Elvira, additional, Partridge, J. Colin, additional, Poenaru, Dan, additional, Poindexter, Brenda B., additional, Polin, Richard A., additional, Polk, Daniel H., additional, Pursley, DeWayne M., additional, Ramanathan, Rangasamy, additional, Ramierez-Schrempp, Daniela, additional, Regan, Joan A., additional, Richard, Elisabeth G., additional, Robertson, Richard L., additional, Rosen, Mark A., additional, Rubin, Lewis P., additional, Rychik, Jack, additional, Saitta, Sulagna C., additional, Sánchez, Pablo J., additional, Sarnat, Harvey B., additional, Schanler, Richard J., additional, Scher, Mark S., additional, Seri, Istvan, additional, Siegfried, Elaine C., additional, Silverman, Gary A., additional, Simmons, Rebecca, additional, Sniderman, Susan, additional, Spray, Thomas L., additional, Stanley, Charles A., additional, Stevenson, David K., additional, Stoll, Barbara J., additional, Taeusch, H. William, additional, Tarczy-Hornoch, Peter, additional, Taylor, George A., additional, Thomas, Janet A., additional, Tulassay, Tivadar, additional, van de Ven, Carmella, additional, Vohr, Betty R., additional, Ward, Robert M., additional, Weintrub, Peggy Sue, additional, Welty, Stephen, additional, Wernovsky, Gil, additional, Williams, Calvin B., additional, Wright, Linda L., additional, Young, Alison Z., additional, Zackai, Elaine H., additional, and Zderic, Stephen A., additional

Published
2005
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49. Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients

Author

Conway, Robert L., Pressman, Barry D., Dobyns, William B., Danielpour, Moise, Lee, John, Sanchez-Lara, Pedro A., Butler, Merlin G., Zackai, Elaine, Campbell, Lindsey, Saitta, Sulagna C., Clericuzio, Carol L., Milunsky, Jeff M., Hoyme, Eugene H., Shieh, Joseph, Moeschler, John B., Crandall, Barbara, Lauzon, Julie L., Viskochil, David H., Harding, Brian, and Graham, John M., Jr.

Published
2007
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