SCN1A, encoding the alpha 1 subunit of the sodium channel, is associated with several
epilepsy syndromes and a range of other diseases. SCN1A represents the archetypal …

Abstract The 2017 International League Against Epilepsy classification has defined a three‐
tier system with epilepsy syndrome identification at the third level. Although a syndrome …

Epilepsy genetics is a rapidly develo** field, in which novel disease‐associated genes,
novel mechanisms associated with epilepsy, and precision medicine approaches are …

Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1),
have been associated with a spectrum of epilepsies and neurodevelopmental disorders …

PURPOSE OF REVIEW This article reviews the clinical features, typical EEG findings,
treatment, prognosis, and underlying molecular etiologies of the more common genetic …

Objective Through international collaboration, we evaluated the phenotypic aspects of a
multiethnic cohort of KCNT1‐related epilepsy and explored genotype‐phenotype …

Malignant migrating partial seizure of infancy (MMPSI) is a devastating and
pharmacoresistant form of infantile epilepsy. MMPSI has been linked to multiple gain-of …

Pathogenic variants in KCNA2, encoding for the voltage-gated potassium channel Kv1. 2,
have been identified as the cause for an evolving spectrum of neurological disorders …

Objective We aimed to describe the extent of neurodevelopmental impairments and identify
the genetic etiologies in a large cohort of patients with epilepsy with myoclonic atonic …

The 2017 ILAE classification has defined a three-tier system with epilepsy syndrome
identification at the third level. While a syndrome cannot be determined in all children with …