Skip to main content
Have a personal or library account? Click to login
KCNA2-Related Epileptic Encephalopathy Cover

KCNA2-Related Epileptic Encephalopathy

Open Access
|Apr 2015

References

  1. Syrbe S Hedrich UB Riesch E Djemie T Muller S Moller RS De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy Nat Genet 2015 9 10 10.1038/ng.3239 25751627
  2. Torkamani A Bersell K Jorge BS Bjork RL Friedman JR Jr Bloss CS De novo KCNB1 mutations in epileptic encephalopathy Ann Neurol 2014 76 4 529 40 10.1002/ana.24263 25164438
  3. Miceli F Soldovieri MV Ambrosino P De Maria M Migliore M Migliore R Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits J Neurosci 2015 35 9 3782 93 10.1523/jneurosci.4423-14.2015 25740509
  4. Pena SD Coimbra RL Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy Clin Genetics 2015 87 2 e1 3 10.1111/cge.12542 25477152
  5. Brew HM Gittelman JX Silverstein RS Hanks TD Demas VP Robinson LC Seizures and reduced life span in mice lacking the potassium channel subunit Kv1.2, but hypoexcitability and enlarged Kv1 currents in auditory neurons J Neurophysiol 2007 98 3 1501 25 10.1152/jn.00640.2006 17634333
  6. Miceli F Soldovieri MV Ambrosino P Barrese V Migliore M Cilio MR Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits Proc Natl Acad Sci U S A 2013 110 11 4386 91 10.1073/pnas.1216867110 23440208
Language: English
Page range: 27 - 27
Submitted on: Mar 28, 2015
Accepted on: Apr 10, 2015
Published on: Apr 29, 2015
Published by: Pediatric Neurology Briefs Publishers
In partnership with: Paradigm Publishing Services

© 2015 Jennifer A Kearney, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.