Article
Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations.
Research in developmental disabilities - 1 Sept 2016
Granild Bie Mertz Line, Christensen Rikke, Vogel Ida, Hertz Jens Michael, Østergaard John R
Abstract excerpt
BACKGROUND: Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, epilepsy, and low threshold for laughter. AIMS: We investigated the occurrence and severity of epilepsy and laughter-induced loss of postural muscle tone determined by the different genetic subtypes. METHODS: This study included 39 children with AS. Deletion breakpoints were determined by high resolution CGH...
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