Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism

Annals of Neurology

Volumn 74, Issue 1, 2013, Pages 128-139

  Liu, Yu ^a   Lopez Santiago, Luis F ^a   Yuan, Yukun ^a   Jones, Julie M ^a   Zhang, Helen ^a   O'Malley, Heather A ^a   Patino, Gustavo A ^a   O'Brien, Janelle E ^a   Rusconi, Raffaella ^a,e   Gupta, Ajay ^b   Thompson, Robert C ^a   Natowicz, Marvin R ^b,c   Meisler, Miriam H ^a   Isom, Lori L ^a   Parent, Jack M ^a,d  

^a UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^b CLEVELAND CLINIC LERNER COLLEGE OF MEDICINE   (United States)

^c LERNER RESEARCH INSTITUTE   (United States)

^d VA ANN ARBOR HEALTHCARE SYSTEM   (United States)

^e GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MICROTUBULE ASSOCIATED PROTEIN 2; SODIUM CHANNEL NAV1.1; TYROSINE 3 MONOOXYGENASE; VESICULAR GLUTAMATE TRANSPORTER 1;

ARTICLE; BRAIN NERVE CELL; CASE REPORT; CHILD; CODON; CONTROLLED STUDY; DONOR SITE; EXON; EXPRESSION VECTOR; FIBROBLAST; FIBROBLAST CULTURE; FOREBRAIN; GENE EXPRESSION PROFILING; GENE MUTATION; HETEROLOGOUS EXPRESSION; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; INTERNEURON; LOSS OF FUNCTION MUTATION; NERVE CELL DIFFERENTIATION; NERVE CELL EXCITABILITY; NEURONAL CHANNELOPATHY; NEUROPATHOLOGY; NONSENSE MUTATION; PLURIPOTENT STEM CELL; PRIORITY JOURNAL; PYRAMIDAL NERVE CELL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SODIUM CURRENT; VOLTAGE CLAMP; WESTERN BLOTTING; WILD TYPE;

CELL DIFFERENTIATION; CELLS, CULTURED; CHILD; EPILEPSIES, MYOCLONIC; FEMALE; FIBROBLASTS; HUMANS; INHIBITORY POSTSYNAPTIC POTENTIALS; MALE; MEMBRANE POTENTIALS; MUTATION; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; NEURONS; PATCH-CLAMP TECHNIQUES;

EID: 84883302304     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.23897     Document Type: Article

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