Article
SCN1A mutations in Dravet syndrome: impact of interneuron dysfunction on neural networks and cognitive outcome.
Epilepsy & behavior : E&B - 1 Mar 2012
Bender Alex C, Morse Richard P, Scott Rod C, Holmes Gregory L, Lenck-Santini Pierre-Pascal
Abstract excerpt
Dravet syndrome (DS) is a childhood disorder associated with loss-of-function mutations in SCN1A and is characterized by frequent seizures and severe cognitive impairment. Animal studies have revealed new insights into the mechanisms by which mutations in this gene, encoding the type I voltage-gated sodium channel (Na(v)1.1), may lead to seizure activity and cognitive dysfunction. In this review, we further...
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