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Understanding Epilepsy Genetics

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Category Archives: DDX3X

Publications of the week: DDX3X, KCND3, and NAPB

Posted on August 7, 2015 by Ingo Helbig

Issue 11/2015. This issue of our publications of the week is about three novel genes that were published recently, including a relatively frequent cause of intellectual disability in females, a gene for spinocerebellar ataxia, and a mutation in a novel SNARE-complex associated protein. Continue reading →

Posted in DDX3X
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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 heritability 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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