| 摘要 |
The invention relates to the disease associated mutant gene field, particularly relates to genetic disease gene mutation and genetical epilepsy-combining febrile convulsion additional symptom associated gene mutation, and more particularly relates to genetical epilepsy-combining febrile convulsion additional symptom associated SCN1A gene mutation, and a detection method and use thereof. Specifically, the present invention discloses SCN1A gene or protein with the following mutations of c.4442T & gt and C / p.Val1481Ala. |
