MUTATIONS DANS LA SOUS-UNITE ALPHA1 DU CANAL SODIQUE DU GENE NEURONAL, POLYPEPTIDES ASSOCIES, ET TRAITEMENT DU SYNDROME GEFS+ (EPILEPSIE GENERALISEE AVEC CRISES FEBRILES +)
WALLACE, ROBYN HEATHER,MULLEY, JOHN CHARLES,BERKOVIC, SAMUEL FRANK
申请号：
CA2431891
公开号：
CA2431891C
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 alpha1-subunit, SCN1A, are disclosed. The methods of using their associatedpolypeptides for treating sodium channel dysfunction disorders includinggeneralised epilepsy are also disclosed.
