Characteristics of KCNQ 2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy

Antiepileptic therapy approaches in KCNQ2 related epilepsy: A systematic review

(2019) M. Kuersten et al.   European Journal of Medical Genetics

Modulation of Kv7 channels and excitability in the brain

(2016) Derek L. Greene et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Clinical implications ofSCN1Amissense and truncation variants in a large Japanese cohort with Dravet syndrome

(2016) Atsushi Ishii et al.   EPILEPSIA

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy

(2016) Atsushi Ishii et al.   JOURNAL OF MEDICAL GENETICS

Development and validation of an epitope prediction tool for swine (PigMatrix) based on the pocket profile method

(2015) Andres H. Gutiérrez et al.   BMC BIOINFORMATICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

EpilepsyGene: a genetic resource for genes and mutations related to epilepsy

(2014) Xia Ran et al.   NUCLEIC ACIDS RESEARCH

PIP2 regulation of KCNQ channels: biophysical and molecular mechanisms for lipid modulation of voltage-dependent gating

(2014) Mark A. Zaydman et al.   Frontiers in Physiology

Dominant-negative effects ofKCNQ2mutations are associated with epileptic encephalopathy

(2013) Gökce Orhan et al.   ANNALS OF NEUROLOGY

Clinical spectrum of early onset epileptic encephalopathies caused byKCNQ2mutation

(2013) Mitsuhiro Kato et al.   EPILEPSIA

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

(2013) Maria Virginia Soldovieri et al.   HUMAN MUTATION

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

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

(2011) Sarah Weckhuysen et al.   ANNALS OF NEUROLOGY

Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures

(2009) H. Kurahashi et al.   NEUROLOGY

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

(2009) Noa Regev et al.   PLoS One

A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions

(2008) Atsushi Ishii et al.   BRAIN & DEVELOPMENT

Calmodulin regulates the trafficking of KCNQ2 potassium channels

(2007) Ainhoa Etxeberria et al.   FASEB JOURNAL