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Understanding Epilepsy Genetics

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Tag Archives: FCD

Publications of the week: Epilepsiome update, NPRL3, CHD2, and EXT2

Posted on August 21, 2015 by Ingo Helbig

Issue 12/2015. This issue of our publications of the week is about two new candidates for familial epilepsies and a study about the phenotypic range of one of our novel epilepsy genes. Also, I wanted to add a brief update on the progress of our Epilepsiome project.

Continue reading →

Posted in 2015, CHD2, publications of the week

Publications of the week – GABRB3, SLC2A1, and SCN1A

Posted on June 13, 2014 by Ingo Helbig (Kiel)

No novel genes. This was actually a slow week with respect to publications in epilepsy genetics. No new gene was published, so we’ll focus on three publications that tell us bit more about three genes that we already know. This week’s publications cover new reports on GABRB3, SLC2A1, and SCN1A in brain malformations. Continue reading →

Posted in 2014, Opinion, 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 epilepsy research epileptic encephalopathy EuroEPINOMICS exome exome sequencing febrile seizures GABRA1 GABRG2 GEFS+ genetic architecture genome sequencing GRIN2A GWAS 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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