Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Na v 1.2, have
been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we …

Purpose: To assess the yield of diagnostic exome sequencing (DES) and to characterize
the molecular findings in characterized and novel disease genes in patients with epilepsy. …

Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of
STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and …

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 …

Background We aimed for a comprehensive delineation of genetic, functional and phenotypic
aspects of GRIN2B encephalopathy and explored potential prospects of personalised …

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

We report detailed functional analyses and genotype-phenotype correlations in 392 individuals
carrying disease-causing variants in SCN8A, encoding the voltage-gated Na + channel …

Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown
to be essential for normal learning and synaptic plasticity in mice, but its requirement for …

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: Following our original description of generalized epilepsy with febrile seizures
plus (GEFS+) in 1997, we analyze the phenotypic spectrum in 409 affected individuals in 60 …