Article
Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq.
PLoS genetics - 1 Oct 2016
Hawkins Nicole A, Zachwieja Nicole J, Miller Alison R, Anderson Lyndsey L, Kearney Jennifer A
Abstract excerpt
A substantial number of mutations have been identified in voltage-gated sodium channel genes that result in various forms of human epilepsy. SCN1A mutations result in a spectrum of severity ranging from mild febrile seizures to Dravet syndrome, an infant-onset epileptic encephalopathy. Dravet syndrome patients experience multiple seizures types that are often refractory to treatment, developmental delays, and...
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