Article
SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEG.
Neuropediatrics - 1 Aug 2015
von Stülpnagel Celina, Funke Claudia, Haberl Caroline, Hörtnagel Konstanze, Jüngling Jerome, Weber Yvonne G, Staudt Martin, Kluger Gerhard
Abstract excerpt
BACKGROUND: SYNGAP1, which encodes a RAS-GTPase-activating protein, is located on the short arm of chromosome 6. Heterozygous SYNGAP1 gene mutations have been associated with autism spectrum disorders, delay of psychomotor development, acquired microcephaly, and several forms of idiopathic generalized epilepsy. Here, we report a patient with a new SYNGAP1 stop mutation, and compare the phenotype with published...
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