Sequencing-based studies have identified novel risk genes associated with severe epilepsies
and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To …

Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy,
comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with …

Rare copy-number variants (rCNVs) include deletions and duplications that occur infrequently
in the global human population and can confer substantial risk for disease. In this study, …

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 …

Recent studies reported DEPDC5 loss‐of‐function mutations in different focal epilepsy
syndromes. Here we identified 1 predicted truncation and 2 missense mutations in 3 children with …

Ongoing challenges in diagnosing focal cortical dysplasia (FCD) mandate continuous
research and consensus agreement to improve disease definition and classification. An …

Advances in gene discovery for neurodevelopmental disorders have identified SCN2A
dysfunction as a leading cause of infantile seizures, autism spectrum disorder, and intellectual …

Objective: To determine the phenotypic spectrum caused by mutations in GRIN1 encoding
the NMDA receptor subunit GluN1 and to investigate their underlying functional …

Brain voltage-gated sodium channel Na V 1.1 (SCN1A) loss-of-function variants cause the
severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic …

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a developmental
encephalopathy caused by pathogenic variants in the gene CDKL5. This unique disorder …