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• W2513406030 startingPage "42" @default.
• W2513406030 abstract "Dravet Syndrome is a devastating childhood epilepsy disorder with high incidence of premature death plus comorbidities of ataxia, circadian rhythm disorder, impaired sleep quality, autistic-like social-interaction deficits and severe cognitive impairment. It is primarily caused by heterozygous loss-of-function mutations in the SCN1A gene that encodes brain voltage-gated sodium channel type-1, termed NaV1.1. Here I review experiments on mouse genetic models that implicate specific loss of sodium currents and action potential firing in GABAergic inhibitory interneurons as the fundamental cause of Dravet Syndrome. The resulting imbalance of excitatory to inhibitory neurotransmission in neural circuits causes both epilepsy and co-morbidities. Promising therapeutic approaches involving atypical sodium channel blockers, novel drug combinations, and cannabidiol give hope for improved outcomes for Dravet Syndrome patients." @default.
• W2513406030 created "2016-09-16" @default.
• W2513406030 creator A5078941732 @default.
• W2513406030 date "2018-04-01" @default.
• W2513406030 modified "2023-10-10" @default.
• W2513406030 title "Dravet syndrome: a sodium channel interneuronopathy" @default.
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• W2513406030 doi "https://doi.org/10.1016/j.cophys.2017.12.007" @default.
• W2513406030 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6091224" @default.
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• W2513406030 hasPublicationYear "2018" @default.
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