Evidence‐based guidelines, or recommendations, for the management of infants with
seizures are lacking. A Task Force of the Commission of Pediatrics developed a consensus …

Emerging evidence indicates that epileptic encephalopathies are genetically highly
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further …

Epileptic encephalopathies are a phenotypically and genetically heterogeneous group of
severe epilepsies accompanied by intellectual disability and other neurodevelopmental …

Objective: SCN8A encodes the sodium channel voltage-gated α8-subunit (Na v 1.6). SCN8A
mutations have recently been associated with epilepsy and neurodevelopmental disorders. …

Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant,
fever-sensitive seizures followed by cognitive decline. Mutations in SCN1A explain …

Epilepsy is a frequent feature of neurodevelopmental disorders (NDDs), but little is known
about genetic differences between NDDs with and without epilepsy. We analyzed de novo …

Objective: To delineate phenotypic heterogeneity, we describe the clinical features of a cohort
of patients with GABRA1 gene mutations. Methods: Patients with GABRA1 mutations were …

Objective To report on six patients with SCN 1A mutations and malformations of cortical
development ( MCD s) and describe their clinical course, genetic findings, and electrographic, …

Objective: To delineate the phenotype of early childhood epileptic encephalopathy due to de
novo mutations of CHD2, which encodes the chromodomain helicase DNA binding protein …

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by
the degeneration of motor neurons and progressive muscle weakness. It is caused by …