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: RNA editing

Papers of the week – DEPDC5, a “female protective model” and rescued KCNT1 mutations

Posted on March 7, 2014 by dennislal

In final week before our EuroEPINOMICS Bild1bioinformatics workshop in Leuven people get a little busy and start reading up on all sorts of things. Accordingly, this week’s papers come from all areas of genetics and life science, including three studies in Annals of Neurology on epilepsy genetics.

Continue reading →

Posted in papers of the week
follow @ingohelbig


Tag Cloud

16p13.11 autism autosomal recessive disorders CACNA1A CDKL5 CHD2 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