The variable phenotypes of KCNQ-related epilepsy

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

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

(2013) Federico Zara 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

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

(2013) S. Weckhuysen et al.   NEUROLOGY

KCNQ2 encephalopathy: Delineation of the electroclinical phenotype and treatment response

(2013) A. L. Numis 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

Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy

(2012) Heather C. Mefford et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome

(2012) Hirotomo Saitsu et al.   ANNALS OF NEUROLOGY

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

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

KCNQ2 Potassium Channel Epileptic Encephalopathy Syndrome: Divorce of an Electro-Mechanical Couple?

(2012) John J. Millichap et al.   Epilepsy Currents

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

(2011) Sarah Weckhuysen et al.   ANNALS OF NEUROLOGY

A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33

(2010) Ryan N. Traylor et al.   PLoS One

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

(2009) H. Kurahashi et al.   NEUROLOGY

Genetics of epilepsy syndromes starting in the first year of life

(2009) L. Deprez et al.   NEUROLOGY

Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions

(2009) Linda Volkers et al.   NEUROSCIENCE LETTERS

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

(2008) Haiyan Li et al.   EPILEPSY RESEARCH