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

Epileptic encephalopathies of infancy and childhood comprise a large, heterogeneous
group of severe epilepsies characterised by several seizure types, frequent epileptiform …

Type A γ-aminobutyric acid (GABAA) receptors are pentameric ligand-gated ion channels
and the main drivers of fast inhibitory neurotransmission in the vertebrate nervous system …

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 …

Decades of experimental work have established an imbalance of excitation and inhibition as
the leading mechanism of the transition from normal brain function to seizure. In epilepsy …

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

Intellectual disability, autism spectrum disorder, and epilepsy are prime examples of
neurodevelopmental disorders that collectively affect a significant percentage of the world …

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

OBJECTIVE: De novo mutations of the gene sodium channel 1α (SCN1A) are the major
cause of Dravet syndrome, an infantile epileptic encephalopathy. US incidence of DS has …

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