Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus

Brain and Development

Volumn 31, Issue 2, 2009, Pages 179-182

  Kumakura, Akira ^a   Ito, Masatoshi ^b   Hata, Daisuke ^a   Oh, Norifumi ^c   Kurahashi, Hirokazu ^c,d   Wang, Ji wen ^c,e   Hirose, Shinichi ^c  

^a Kitano Hospital   (Japan)

^b SHIGA MEDICAL CENTER FOR CHILDREN   (Japan)

^c FUKUOKA UNIVERSITY   (Japan)

^d NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^e SHANDONG UNIVERSITY   (China)

Author keywords

GEFS+ spectrum; Novel SCN1A mutation; Partial epilepsy with FS+; Splice site mutation; Truncating type mutation

Indexed keywords

CARBAMAZEPINE; DIAZEPAM; VALPROIC ACID;

ARTICLE; CASE REPORT; DRUG SUBSTITUTION; ELECTROENCEPHALOGRAM; FEBRILE CONVULSION; FOCAL EPILEPSY; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MYOCLONUS EPILEPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; RNA SPLICING;

BASE SEQUENCE; CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; EPILEPSIES, PARTIAL; EPILEPSY, GENERALIZED; HUMANS; MALE; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PHENOTYPE; POINT MUTATION; RNA SPLICE SITES; SEIZURES, FEBRILE; SODIUM CHANNELS;

EID: 58249138412     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2008.06.001     Document Type: Article

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