Article
Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.
Neuropediatrics - 1 Dec 2015
van de Pol Laura A, Wolf Nicole I, van Weissenbruch Mirjam M, Stam Cornelie J, Weiss Janneke M, Waisfisz Quinten, Kevelam Sietske H, Bugiani Mariana, van de Kamp Jiddeke M, van der Knaap Marjo S
Abstract excerpt
A variety of pathologies can underlie early-onset severe encephalopathy with epilepsy. To aid the diagnostic process in such patients we present an overview of causes, including the rapidly expanding list of genes involved. When no explanation is found, whole-exome sequencing (WES) can be used in an attempt to identify gene defects in patients suspected to suffer from a genetic form. We describe three siblings,...
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