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 …

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

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 …

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 …

Disease-causing variants in STXBP1 are among the most common genetic causes of
neurodevelopmental disorders. However, the phenotypic spectrum in STXBP1-related disorders is …

Developmental and epileptic encephalopathies (DEEs) are a group of severe epilepsies
characterized by refractory seizures and developmental impairment. Sequencing approaches …

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

Background Many genes are candidates for involvement in epileptic encephalopathy ( EE )
because one or a few possibly pathogenic variants have been found in patients, but …

Pathogenic variants in KCNT1 represent an important cause of treatment-resistant epilepsy,
for which an effective therapy has been elusive. Reports about the effectiveness of quinidine…

De novo in-frame deletions and duplications in the SPTAN1 gene, encoding the non-erythrocyte
αII spectrin, have been associated with severe West syndrome with hypomyelination …