Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse*

Volume: 61, Issue: 12, Pages: 2847 - 2856
Published: Nov 2, 2020
Abstract
SCN8A encephalopathy is a developmental epileptic encephalopathy typically caused by de novo gain-of-function mutations in Nav 1.6. Severely affected individuals exhibit refractory seizures, developmental delay, cognitive disabilities, movement disorders, and elevated risk of sudden death. Patients with the identical SCN8A variant can differ in clinical course, suggesting a role for modifier genes in determining disease severity. The...
Paper Details
Title
Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse*
Published Date
Nov 2, 2020
Journal
Volume
61
Issue
12
Pages
2847 - 2856
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