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Understanding Epilepsy Genetics

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Tag Archives: BRAT1

Weekly updates – BRAT1, NPRL2 and NPRL3, PIK3R2

Posted on November 6, 2015 by Ingo Helbig

Issue 17/2015. This week, we discuss three recent publications on a rare cause of severe infantile epileptic encephalopathies, two novel candidate genes for focal epilepsies, and a novel genetic cause for one of the most common brain malformations in humans. Continue reading →

Posted in Updates

Publications of the week – ATK3, TBC1D24, and BRAT1

Posted on January 9, 2015 by Ingo Helbig (Kiel)

Getting started in 2015. For the first issue of publications of the week this year, we have chosen a few case reports of genetic epilepsies, which expand the spectrum of known syndromes. All three publications highlight important features of rare genetic epilepsies that you might not have been aware of. Continue reading →

Posted in 2015, papers of the week, Publications
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Tag Cloud

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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