Objective “How many epilepsy genes are there?” is a frequently asked question. We sought
to (1) provide a curated list of genes that cause monogenic epilepsies, and (2) compare and …

Epilepsy is a group of brain disorders characterised by an enduring predisposition to
generate unprovoked seizures. Fuelled by advances in sequencing technologies and …

Psychiatric disorders and common epilepsies are heritable disorders with a high comorbidity
and overlapping symptoms. However, the causative mechanisms underlying this …

Nonlesional focal epilepsies (nlFE) represent a heterogenous group of syndromes. They
encompass self-limited focal epilepsies of childhood and youth, rare focal, familial …

Identifying genetic risk factors for highly heterogeneous disorders like epilepsy remains
challenging. Here, we present the largest whole-exome sequencing study of epilepsy to …

While neurological and psychiatric disorders have historically been considered to reflect
distinct pathogenic entities, recent findings suggest shared pathobiological mechanisms …

POU3F3 variants cause developmental delay, behavioral problems, hypotonia and
dysmorphic features. We investigated the phenotypic and genetic landscape, and genotype …

Focal and generalized epilepsies are associated with robust differences in magnetic
resonance imaging (MRI) measures of subcortical structures, gray matter, and white matter …

With more than 6000 attendees between in-person and virtual offerings, the American
Epilepsy Society Meeting 2022 in Nashville, felt as busy as in prepandemic times. An ever …

A diagnosis of epilepsy has significant consequences for an individual but is often
challenging in clinical practice. Novel biomarkers are thus greatly needed. Here, we …