Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

Epilepsy is a common and serious neurologic disease with a strong genetic component.
Genetic studies have identified an increasing collection of disease-causing genes. The …

Epilepsy is a group of disorders characterized by recurrent seizures, and is one of the most
common neurological conditions. The genetic basis of epilepsy is clear from epidemiological …

Technological advances have paved the way for accelerated genomic discovery and are
bringing precision medicine clearly into view. Epilepsy research in particular is well suited to …

ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded
mitochondrial membrane protein implicated in mitochondrial dynamics, nucleoid …

The intrinsic electrical characteristics of different types of neurons are shaped by the K+
channels they express. From among the more than 70 different K+ channel genes …

Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-
function or a gain-of-function of the voltage-gated K+ channel Kv1. 2, were described to …

The rapid pace of disease gene discovery has resulted in tremendous advances in the field
of epilepsy genetics. Clinical testing with comprehensive gene panels, exomes, and …

Objective: To define a distinct SCN1A developmental and epileptic encephalopathy with
early onset, profound impairment, and movement disorder. Methods: A case series of 9 …

Ion channels are crucial in the generation and modulation of excitability in the nervous
system and have been implicated in human epilepsy. Forty-one epilepsy-associated ion …