Epilepsy is one of the most common serious brain conditions, affecting over 70 million
people worldwide. Its incidence has a bimodal distribution with the highest risk in infants and …

Summary The International League Against Epilepsy has recently published a new
classification of epileptic seizures and epilepsies to reflect the major scientific advances in …

Purpose To develop an evidence-based clinical practice guideline for the use of exome and
genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital …

Objective Numerous genetic testing options for individuals with epilepsy have emerged over
the past decade without clear guidelines regarding optimal testing strategies. We performed …

Epilepsy is a neurological disorder characterized by an increased predisposition for
seizures. Although this definition suggests that it is a single disorder, epilepsy encompasses …

Importance Mesial temporal lobe epilepsy (MTLE) is the most common focal epilepsy
subtype and is often refractory to antiseizure medications. While most patients with MTLE do …

A monogenic etiology can be identified in up to 40% of people with severe epilepsy. To
address earlier and more appropriate treatment strategies, clinicians are required to know …

The last decade saw impressive advances not only in the discovery of gene mutations
causing epilepsy, but also in unraveling the molecular mechanisms underlying the clinical …

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 …

Despite the remarkable number of scientific breakthroughs of the last 100 years, the
treatment of neurodevelopmental disorders (eg, autism spectrum disorder, intellectual …