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Category Archives: DDX3X

Publications of the week: DDX3X, KCND3, and NAPB

Posted on August 7, 2015 by Ingo Helbig

Issue 11/2015. This issue of our publications of the week is about three novel genes that were published recently, including a relatively frequent cause of intellectual disability in females, a gene for spinocerebellar ataxia, and a mutation in a novel SNARE-complex associated protein. Continue reading →

Posted in DDX3X
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@euroepinomics folgen

How to get started – the most frequently read posts

1- SCN2A in benign seizures, autism and epileptic encephalopathy
2 - SCN1A – this is what you should know in 2015
3 - Why epilepsy gene discovery is now officially over
4 - SCN8A encephalopathy – and how it differs from Dravet Syndrome
5 - SCN1A - This is what you need to know in 2014
6 - SCN2A – this is what you need to know in 2015
7 - These are the top 10 epilepsy genes of 2014
8 - Identifying the Doose gene
9 - When diverse phenotypes become a single syndrome
10 - How to detect de novo mutations in exome data

Tag Cloud

16p13.11 autism autosomal recessive disorders CDKL5 CHD2 copy number variation de novo mutations DEPDC5 Dravet Syndrome Epi4K epilepsy epilepsy genetics epilepsy research epileptic encephalopathy exome exome sequencing febrile seizures GABRA1 GABRG2 GEFS+ genetic architecture genetic risk factors genome sequencing GRIN2A GWAS heritability Idiopathic Generalized Epilepsy IGE Infantile Spasms intellectual disability juvenile myoclonic epilepsy KCNQ2 KCNT1 microdeletion rare variants schizophrenia science SCN1A SCN1B SCN2A SCN8A STXBP1 West Syndrome whole exome sequencing whole genome sequencing
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