MUTATIONS DANS LE GENE NEURONAL CODANT POUR LA SOUS-UNITE ALPHA-1 DU CANAL SODIQUE, POLYPEPTIDES ASSOCIES ET TRAITEMENT DU SYNDROME D'EPILEPSIE GENERALISEE AVEC CRISES FEBRILES PLUS
WALLACE, ROBYN HEATHER,MULLEY, JOHN CHARLES,BERKOVIC, SAMUEL FRANK
申请号：
CA2714357
公开号：
CA2714357C
申请日:
2001.12.20
申请国别(地区):
CA
年份:
2013
代理人:
摘要：
The mutations D188V, V1353L, I1656M in the neuronal gene sodium-channel alphal-subunit, SCN1A, are disclosed. The methods of using their associated polypeptides for treating sodium channel dysfunction disorders including generalised epilepsy are also disclosed.
