Article
Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 4 Sept 2012
Cheah Christine S, Yu Frank H, Westenbroek Ruth E, Kalume Franck K, Oakley John C, Potter Gregory B, Rubenstein John L, Catterall William A
Abstract excerpt
Heterozygous loss-of-function mutations in the brain sodium channel Na(V)1.1 cause Dravet syndrome (DS), a pharmacoresistant infantile-onset epilepsy syndrome with comorbidities of cognitive impairment and premature death. Previous studies using a mouse model of DS revealed reduced sodium currents and impaired excitability in GABAergic interneurons in the hippocampus, leading to the hypothesis that impaired...
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