Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated SCN1A mutation.

Xie, Yunyao; Ng, Nathan N; Safrina, Olga S; Ramos, Carmen M; Ess, Kevin C; Schwartz, Philip H; Smith, Martin A; O'Dowd, Diane K

Xie, Yunyao; Ng, Nathan N; Safrina, Olga S; Ramos, Carmen M; Ess, Kevin C; Schwartz, Philip H; Smith, Martin A; O'Dowd, Diane K.

Afiliación

Xie Y; Department of Developmental and Cell Biology, University of California, Irvine, CA, United States of America.
Ng NN; Department of Developmental and Cell Biology, University of California, Irvine, CA, United States of America.
Safrina OS; Department of Developmental and Cell Biology, University of California, Irvine, CA, United States of America.
Ramos CM; Department of Developmental and Cell Biology, University of California, Irvine, CA, United States of America.
Ess KC; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, United States of America.
Schwartz PH; Children's Hospital of Orange County Research Institute, Orange, CA, United States of America.
Smith MA; Department of Anatomy and Neurobiology, University of California, Irvine, CA, United States of America.
O'Dowd DK; Department of Developmental and Cell Biology, University of California, Irvine, CA, United States of America. Electronic address: dkodowd@uci.edu.

Neurobiol Dis ; 134: 104627, 2020 02.

Article en En | MEDLINE | ID: mdl-31786370

Asunto(s)

Epilepsia/genética; Canal de Sodio Activado por Voltaje NAV1.1/genética; Neuronas; Genotipo; Humanos; Células Madre Pluripotentes Inducidas; Mutación; Fenotipo; Convulsiones Febriles/genética

Palabras clave

Disease modeling; Electrophysiology; Genetic epilepsy with febrile seizure plus; Induced pluripotent stem cells; Isogenic; Neurons; SCN1A

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Epilepsia / Canal de Sodio Activado por Voltaje NAV1.1 / Neuronas Tipo de estudio: Risk_factors_studies Idioma: En Revista: Neurobiol Dis Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article

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