Epileptic encephalopathies of infancy and childhood comprise a large, heterogeneous
group of severe epilepsies characterised by several seizure types, frequent epileptiform …

Since its first clinical description (on his son) by William James West (1793–1848) in 1841,
and the definition of the classical triad of (1) infantile spasms;(2) hypsarrhythmia, and (3) …

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

Epilepsy is common in early childhood. In this age group it is associated with high rates of
therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number …

Genetic disorders are a leading cause of morbidity and mortality in infants. Rapid whole-
genome sequencing (rWGS) can diagnose genetic disorders in time to change acute …

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 …

The voltage-gated potassium channel KCNQ2 is responsible for M-current in neurons and is
an important drug target to treat epilepsy, pain and several other diseases related to …

Objectives To describe the antiepileptic drug (AED) treatment of patients with early infantile
epileptic encephalopathy due to KCNQ 2 mutations during the neonatal phase and the first …

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

Purpose Mosaicism probably represents an underreported cause of genetic disorders due to
detection challenges during routine molecular diagnostics. The purpose of this study was to …