Genotype–phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of Kv7.2 potassium channel subunits
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Title
Genotype–phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of Kv7.2 potassium channel subunits
Authors
Keywords
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Journal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 110, Issue 11, Pages 4386-4391
Publisher
Proceedings of the National Academy of Sciences
Online
2013-02-26
DOI
10.1073/pnas.1216867110
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Note: Only part of the references are listed.- Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome
- (2012) Hirotomo Saitsu et al. ANNALS OF NEUROLOGY
- Gating Currents from Kv7 Channels Carrying Neuronal Hyperexcitability Mutations in the Voltage-Sensing Domain
- (2012) Francesco Miceli et al. BIOPHYSICAL JOURNAL
- The mechanism of action of retigabine (ezogabine), a first-in-class K+ channel opener for the treatment of epilepsy
- (2012) Martin J. Gunthorpe et al. EPILEPSIA
- Neonatal seizures: controversies and challenges in translating new therapies from the lab to the isolette
- (2012) Kevin E. Chapman et al. EUROPEAN JOURNAL OF NEUROSCIENCE
- The Kv7.2/Kv7.3 Heterotetramer Assembles with a Random Subunit Arrangement
- (2012) Andrew P. Stewart et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Genetics of early-onset epilepsy with encephalopathy
- (2012) Rima Nabbout et al. Nature Reviews Neurology
- KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
- (2011) Sarah Weckhuysen et al. ANNALS OF NEUROLOGY
- Driving With No Brakes: Molecular Pathophysiology of Kv7 Potassium Channels
- (2011) Maria Virginia Soldovieri et al. PHYSIOLOGY
- Effect of Treatment of Subclinical Neonatal Seizures Detected With aEEG: Randomized, Controlled Trial
- (2010) L. G. M. van Rooij et al. PEDIATRICS
- Targeting the voltage sensor of Kv7.2 voltage-gated K+ channels with a new gating-modifier
- (2010) A. Peretz et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A KCNQ channel opener for experimental neonatal seizures and status epilepticus
- (2009) YogendraSinh H. Raol et al. ANNALS OF NEUROLOGY
- Clinical Neonatal Seizures are Independently Associated with Outcome in Infants at Risk for Hypoxic-Ischemic Brain Injury
- (2009) Hannah C. Glass et al. JOURNAL OF PEDIATRICS
- Neutralization of a unique, negatively-charged residue in the voltage sensor of KV7.2 subunits in a sporadic case of benign familial neonatal seizures
- (2009) Francesco Miceli et al. NEUROBIOLOGY OF DISEASE
- Gating Consequences of Charge Neutralization of Arginine Residues in the S4 Segment of Kv7.2, an Epilepsy-Linked K+ Channel Subunit
- (2008) Francesco Miceli et al. BIOPHYSICAL JOURNAL
- Nervous system KV7 disorders: breakdown of a subthreshold brake
- (2008) Snezana Maljevic et al. JOURNAL OF PHYSIOLOGY-LONDON
- Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion
- (2008) Ahmad H. Sadewa et al. PEDIATRICS INTERNATIONAL
- Functional significance of axonal Kv7 channels in hippocampal pyramidal neurons
- (2008) M. M. Shah et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy
- (2007) Thomas V. Wuttke et al. JOURNAL OF PHYSIOLOGY-LONDON
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