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

• Main Authors: Laura B. Jones (Author), Colin H. Peters (Author), Richard E. Rosch (Author), Maxine Owers (Author), Elaine Hughes (Author), Deb K. Pal (Author), Peter C. Ruben (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-12-01T00:00:00Z.
• Subjects: article
• Online Access: 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...