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Understanding Epilepsy Genetics

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Tag Archives: Exome fiction

Weekly updates – a Halloween exome ghost story

Posted on October 30, 2015 by Ingo Helbig

Boo! Rather than giving you an update about the most recent genes, I would like to tell you a mysterious gene discovery story that reportedly happened a few years ago. It is a story that I heard from a friend of mine. This story took place in a small University town, somewhere in Northern Europe, located on a towering cliff above the sea. Continue reading →

Posted in Motivation
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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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