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Understanding Epilepsy Genetics

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Tag Archives: interneuron

SCN1A – This is what you need to know in 2014

Posted on May 12, 2014 by Ingo Helbig (Kiel)

Update. As information on the epilepsies caused by SCN1A mutations are amongst our most frequently read posts, we thought that a quick update on the state-of-the art regarding SCN1A would be timely. These are the ten things about SCN1A that you should known in 2014. Continue reading →

Posted in 2014, Epileptic encephalopathy, Familial epilepsies, summary | 6 Comments
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autism autosomal recessive disorders CACNA1A CDKL5 CHD2 CNV de novo mutations DEPDC5 DNM1 Dravet Syndrome Epi4K epilepsy epilepsy genetics epileptic encephalopathy EuroEPINOMICS exome exome sequencing febrile seizures GABRA1 GABRG2 GEFS+ genetic architecture genome sequencing GGE GRIN2A GWAS Idiopathic Generalized Epilepsy IGE 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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