PETROU, STEVEN,BERKOVIC, SAMUEL FRANK,SCHEFFER, INGRID EILEEN
申请号：
CA2520271
公开号：
CA2520271C
申请日:
2004.03.10
申请国别(地区):
CA
年份:
2014
代理人:
摘要：
A method for the diagnosis of severe myoclonic epilepsy of infancy(SMEI) in a patient comprising detecting an alteration in the SCN1A gene,includingin a regulatory region of the gene in a patient sample, and ascertainingwhether thealteration is known to be SMEI associated or non-SMEI associated or, if notknown tobe either, determining the likelihood that it is a SMEI associated alteration.
