Abstract The International League Against Epilepsy (ILAE) Task Force on Nosology and
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …

West syndrome, or infantile spasms syndrome is a frequently catastrophic infantile epileptic
encephalopathy with a variety of etiologies. Despite the heterogeneous nature of causes of …

Background Epileptic encephalopathies are a devastating group of neurological conditions
in which etiological diagnosis can alter management and clinical outcome. Exome …

Infantile spasm (IS) is a distinct epilepsy syndrome characterized by epileptic spasms (the
clinical seizure type) and hypsarrhythmia (the electrographic abnormality). IS is frequently …

We evaluated a new epilepsy genetic diagnostic and counseling service covering a UK
population of 3.5 million. We calculated diagnostic yield, estimated clinical impact, and …

Abstract Infantile Spasms syndrome (ISs) is a characterized by epileptic spasms occurring in
clusters with an onset in the first year of life. West syndrome represents a subset of ISs that …

Although genetic revolution of recent years has vastly expanded a list of genes implicated in
epilepsies, complex architecture of epilepsy genetics is still largely unknown, consequently …

Objective Neuroimaging and genetic testing have been proposed for diagnostic evaluation
of infantile spasms (IS), establishing etiology in~ 60% of multicenter IS cohorts. A …

Purpose: To evaluate initial magnetic resonance imaging (MRI) abnormalities in infantile
spasms, correlate them to clinical characteristics, and describe repeat imaging findings …

The role of genetics in epilepsy has been contemplated since the time of Hippocrates.
Subsequently, twin studies, family studies, linkage studies, and more recently copy number …