Article
Autistic-like behavior, spontaneous seizures, and increased neuronal excitability in a Scn8a mouse model.
Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology - 1 Oct 2021
Wong Jennifer C, Grieco Steven F, Dutt Karoni, Chen Lujia, Thelin Jacquelyn T, Inglis George Andrew S, Parvin Shangrila, Garraway Sandra M, Xu Xiangmin, Goldin Alan L, Escayg Andrew
Abstract excerpt
Patients with SCN8A epileptic encephalopathy exhibit a range of clinical features, including multiple seizure types, movement disorders, and behavioral abnormalities, such as developmental delay, mild-to-severe intellectual disability, and autism. Recently, the de novo heterozygous SCN8A R1620L mutation was identified in an individual with autism, intellectual disability, and behavioral seizures without...
Topics
- Animals
- Autistic Disorder
- Epilepsy
- Humans
- Mice
- Mutation
- NAV1.6 Voltage-Gated Sodium Channel
- Neurons
- Seizures