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

The genetic basis of many epilepsies is increasingly understood, giving rise to the possibility
of precision treatments tailored to specific genetic etiologies. Despite this, current medical …

KCNQ2-related disorders represent a continuum of overlapping neonatal epileptic
phenotypes ranging from self-limited familial neonatal epilepsy (SLFNE) at the mild end to …

Objective: KCNQ2 and KCNQ3 mutations are known to be responsible for benign familial
neonatal seizures (BFNS). A few reports on patients with a KCNQ2 mutation with a more …

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

Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1. 2, have
been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we …

Objective: SCN8A encodes the sodium channel voltage-gated α8-subunit (Nav1. 6). SCN8A
mutations have recently been associated with epilepsy and neurodevelopmental disorders …

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

Objective: To determine the genes underlying Dravet syndrome in patients who do not have
an SCN1A mutation on routine testing. Methods: We performed whole-exome sequencing in …

Genetic malformations of cortical development (MCDs), such as mild MCDs (mMCD), focal
cortical dysplasia (FCD), and hemimegalencephaly (HME), are major causes of severe …