Humans have over 70 potassium channel genes, but only some of these have been linked
to disease. In this respect, the KCNQ family of potassium channels is exceptional: mutations …

The high pace of gene discovery has resulted in thrilling advances in the field of epilepsy
genetics. Clinical testing with comprehensive gene panels, exomes, or genomes are now …

Abstract The International League Against Epilepsy (ILAE) Task Force on Nosology and
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …

Seizures are the most common neurological emergency in the neonatal period and in
contrast to those in infancy and childhood, are often provoked seizures with an acute cause …

Objective: KCNQ2 and KCNQ3 mutations are known to be responsible for benign familial
neonatal seizures (BFNS). A few reports on patients with a KCNQ2 mutation with a more …

Idiopathic generalized epilepsies account for about 40% of epilepsy up to age 40 and
commonly have a genetic basis. One type is benign familial neonatal convulsions (BFNC), a …

Benign familial neonatal convulsions (BFNC) is an autosomal dominant epilepsy of infancy,
with loci mapped to human chromosomes 20q13. 3 and 8q24. By positional cloning, a …

Objective: To advance the understanding of KCNQ2 encephalopathy genotype–phenotype
relationships and to begin to assess the potential of selective KCNQ channel openers as …

Epileptic disorders affect about 20-40 million people worldwide, and 40% of these are
idiopathic generalized epilepsies (IGEs; ref. 1). Most of the IGEs that are inherited are …

Objective: To study the incidence, clinical features, etiologic distribution, and day of seizure
onset by etiology in neonates with seizures. Design: Prospective, population-based study …