The L1624Q Variant in SCN1A Causes Familial Epilepsy Through a Mixed Gain and Loss of Channel Function

• المؤلفون الرئيسيون: Laura B. Jones (مؤلف), Colin H. Peters (مؤلف), Richard E. Rosch (مؤلف), Maxine Owers (مؤلف), Elaine Hughes (مؤلف), Deb K. Pal (مؤلف), Peter C. Ruben (مؤلف)
• التنسيق: كتاب
• منشور في: Frontiers Media S.A., 2021-12-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

Variants of the SCN1A gene encoding the neuronal voltage-gated sodium channel NaV1.1 cause over 85% of all cases of Dravet syndrome, a severe and often pharmacoresistent epileptic encephalopathy with mostly infantile onset. But with the increased availability of genetic testing for patients with epi...