Variable clinical expression in patients with mosaicism forKCNQ2mutations

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

(2015) Affef Abidi et al.   NEUROBIOLOGY OF DISEASE

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

Neural KCNQ (Kv7) channels

(2009) David A Brown et al.   BRITISH JOURNAL OF PHARMACOLOGY

Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion

(2008) Ahmad H. Sadewa et al.   PEDIATRICS INTERNATIONAL