Article
Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.
Epilepsy research - 1 Sept 2015
Berghuis Bianca, de Kovel Carolien G F, van Iterson Loretta, Lamberts Robert J, Sander Josemir W, Lindhout Dick, Koeleman Bobby P C
Abstract excerpt
BACKGROUND: De novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathy. We described a person with epileptic encephalopathy associated with a mosaic deletion of the SCN8A gene. METHODS: Array comparative genome hybridization was used to identify chromosomal abnormalities. Next Generation Sequencing was used to screen for variants in known and candidate epilepsy...
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