Disease: Epilepsy benign neonatal dominant form
- A KCNQ2 E515D mutation associated with benign familial neonatal seizures and continuous spike and waves during slow-wave sleep syndrome in Taiwan
- A novel de novo KCNQ2 mutation in a child with treatmentresistant early-onset epileptic encephalopathy
- A novel degradation signal derived from distal C-terminal frameshift mutations of KCNQ2 protein which cause neonatal epilepsy
- A novel mutation in KCNQ2 gene causes benign familial infantile convulsions (BFIC) in a Chinese family
- An autosomal recessive form of benign familial neonatal seizures
- Benign familial neonatal convulsions linked to genetic markers on chromosome 20
- Benign familial neonatal convulsions: confirmation of genetic heterogeneity and further evidence for a second locus on chromosome 8q
- Benign familial neonatal convulsions: novel mutation in a newborn
- Benign neonatal seizures
- Clinical aspects of epileptic ion channel disorders
- Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20
- Considerations for prenatal counselling of patients with cardiac rhabdomyomas based on their cardiac and neurologic outcomes
- Disruption of the epilepsy KCNQ2 gene results in neural hyperexcitability
- Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy
- Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits
- Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC)
- Genetics of the epilepsies
- Hyperekplexia: A Single-Center Experience
- Ion channel defects in idiopathic epilepsies
- KCNQ2-Related Epilepsy: Genotype-Phenotype Relationship with Tailored Antiseizure Medication (ASM)-A Systematic Review
- Mapping of genes predisposing to idiopathic generalized epilepsy
- Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy
- Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy
- Molecular pharmacology and therapeutic potential of neuronal Kv7-modulating drugs
- Mutation analysis of WASF2 and GALE genes in one Chinese family with benign familial infantile convulsions with a novel locus
- Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy
- Potassium channel genes and benign familial neonatal epilepsy
- Potassium channelopathies associated with epilepsy-related syndromes and directions for therapeutic intervention
- Seizure characteristics in chromosome 20 benign familial neonatal convulsions
- The spectrum of benign infantile seizures
- Two faces of the same coin: benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations