Article
Interneuron Dysfunction in a New Mouse Model of SCN1A GEFS.
eNeuro - 1 Jan 2000
Das Antara, Zhu Bingyao, Xie Yunyao, Zeng Lisha, Pham An T, Neumann Jonathan C, Safrina Olga, Benavides Daniel R, MacGregor Grant R, Schutte Soleil S, Hunt Robert F, O'Dowd Diane K
Abstract excerpt
Advances in genome sequencing have identified over 1300 mutations in the SCN1A sodium channel gene that result in genetic epilepsies. However, it still remains unclear how most individual mutations within SCN1A result in seizures. A previous study has shown that the K1270T (KT) mutation, linked to genetic epilepsy with febrile seizure plus (GEFS+) in humans, causes heat-induced seizure activity associated with a...
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