Article
Genetic epilepsies with febrile seizures plus: clinical spectrum of Polish patients with SCN1A mutation - preliminary report.
Developmental period medicine - 1 Jan 2000
Terczyńska Iwona, Szczepanik Elżbieta, Duszyc Kinga, Górka Paulina, Tataj Renata, Hoffman-Zacharska Dorota
Abstract excerpt
UNLABELLED: Diseases caused by mutations in SCN1A are currently named Genetic Epilepsies with Febrile Seizures Plus, and this term stands for expanded spectrum of syndrome previously called as GEFS+ (Generalized Epilepsy with Febrile Seizures Plus). SCN1A is the uniquely identified gene directly linked to specific type of epilepsy, and its testing has been included in the screening processes. THE AIM: To diagnose...
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