Logo

Beyond the Ion Channel

Understanding Epilepsy Genetics

Menu

Skip to content
  • Home
  • About this blog
  • The Epilepsiome
    • ALG13
    • ALDH7A1
    • ARX
    • ATP1A3
    • CACNA1A
    • CACNA1H
    • CDKL5
    • CHD2
    • DEPDC5
    • DNM1
    • FOXG1
    • GABRA1
    • GABRB3
    • GRIN2A
    • KCNQ2
    • KCNT1
    • LGI1
    • MECP2
    • PCDH19
    • PRRT2
    • PURA
    • Ring Chromosome 20
    • SCN1A
    • SCN2A
    • SCN8A
    • SLC2A1
    • SLC6A1
    • STXBP1
    • SYNGAP1
    • TBC1D24
    • WDR45
  • Teaching resources
  • The Beach Series Archive
  • Evidence & Interpretation

Tag Archives: mGLUR

Publications of the week – 16p11.2 duplications, autism CNVs, and SETD1A

Posted on June 20, 2014 by Ingo Helbig (Kiel)

This week. This week’s publications in epilepsy genetics might be interesting for you, as they describe the first genetic risk factor for typical rolandic epilepsies, novel CNV studies in autism, and an unexpected de novo mutation in schizophrenia. Continue reading →

Posted in 2014, papers of the week
follow @ingohelbig


Tag Cloud

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 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

Subscribe to blog

Enter your email address to subscribe and receive notifications of new posts.

-------------------------------------------------

Archives

Categories

Meta

  • Log in
  • Entries feed
  • Comments feed
  • WordPress.org