NovelKCNQ2andKCNQ3Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A

AnSCN2Amutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na+current

(2013) Stephan Lauxmann et al.   EPILEPSIA

Clinical spectrum of early onset epileptic encephalopathies caused byKCNQ2mutation

(2013) Mitsuhiro Kato et al.   EPILEPSIA

Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance

(2013) Federico Zara et al.   EPILEPSIA

Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients

(2013) S. Weckhuysen et al.   NEUROLOGY

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

(2013) Mathieu Milh et al.   Orphanet Journal of Rare Diseases

Genotype–phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of Kv7.2 potassium channel subunits

(2013) Francesco Miceli et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders

(2013) Mette Gilling et al.   Frontiers in Genetics

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

(2012) Sarah E. Heron et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: A European case

(2012) Petja Fister et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

(2012) R. Cloarec et al.   NEUROLOGY

Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

(2012) Hsien-Yang Lee et al.   Cell Reports

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

(2011) Sarah Weckhuysen et al.   ANNALS OF NEUROLOGY

Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation

(2011) Lubov Blumkin et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Regulation of Neuronal M-Channel Gating in an Isoform-Specific Manner: Functional Interplay between Calmodulin and Syntaxin 1A

(2011) A. Etzioni et al.   JOURNAL OF NEUROSCIENCE

Driving With No Brakes: Molecular Pathophysiology of Kv7 Potassium Channels

(2011) Maria Virginia Soldovieri et al.   PHYSIOLOGY

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

Ca2+/Calmodulin Disrupts AKAP79/150 Interactions with KCNQ (M-Type) K+ Channels

(2010) M. Bal et al.   JOURNAL OF NEUROSCIENCE

Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes

(2009) Andreas Hahn et al.   BRAIN & DEVELOPMENT

Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC)

(2009) Yoshihiro Sugiura et al.   EPILEPSY RESEARCH

Heterogeneity of glutamatergic and GABAergic release machinery in cerebral cortex: analysis of synaptogyrin, vesicle-associated membrane protein, and syntaxin

(2009) L. Bragina et al.   NEUROSCIENCE

Selective Interaction of Syntaxin 1A with KCNQ2: Possible Implications for Specific Modulation of Presynaptic Activity

(2009) Noa Regev et al.   PLoS One

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

A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions

(2008) Haiyan Li et al.   EPILEPSY RESEARCH

Altered KCNQ3 Potassium Channel Function Caused by the W309R Pore-Helix Mutation Found in Human Epilepsy

(2008) Akira Uehara et al.   JOURNAL OF MEMBRANE BIOLOGY

The C-terminus of Kv7 channels: a multifunctional module

(2008) Yoni Haitin 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

Calmodulin regulates the trafficking of KCNQ2 potassium channels

(2007) Ainhoa Etxeberria et al.   FASEB JOURNAL