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Understanding Epilepsy Genetics

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Tag Archives: 3’UTR

Papers of the week – next-level mutation classifiers and 3’UTR variants in Dravet Syndrome

Posted on February 7, 2014 by dennislal

Bild1The future is now. This week’s publications of the week are about the next generation of in silico mutation interpretation, the power of a full genetic screen in neurodegenerative motor neuron diseases and a possible 3’UTR mutation in Dravet Syndrome. Continue reading →

Posted in 2014, 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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