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Understanding Epilepsy Genetics

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Tag Archives: stem cells

Publications of the week – valproate toxicity, 15q11.2, and genetics of brain size

Posted on January 23, 2015 by Ingo Helbig

Issue 3/2015. This week our publications of the week are about the mechanism behind toxicity of the antiepileptic drug valproic acid in patients with POLG mutations, the phenotypic spectrum of the 15q11.2 microdeletion, and a new large-scale study on the genetics of brain size. Continue reading →

Posted in 2015, Epileptic encephalopathy, Ideas, papers of the week
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16p13.11 autism autosomal recessive disorders CACNA1A CDKL5 CHD2 ClinGen CNV de novo mutations DEPDC5 Dravet Syndrome Epi4K epilepsy epilepsy genetics epileptic encephalopathy EuroEPINOMICS exome exome sequencing febrile seizures GABRA1 GABRG2 GEFS+ genetic architecture genome sequencing GRIN2A GWAS HPO Idiopathic Generalized Epilepsy Infantile Spasms intellectual disability juvenile myoclonic epilepsy KCNQ2 KCNT1 microdeletion precision medicine rare variants science SCN1A SCN1B SCN2A SCN8A STXBP1 SYNGAP1 whole exome sequencing whole genome sequencing

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