Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which
about one-third are resistant to current treatments. Here we report a multi-ancestry genome …

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 …

Autism spectrum disorder (ASD), Tourette syndrome (TS), and attention-deficit/hyperactivity
disorder (ADHD) display strong male sex bias, due to a combination of genetic and …

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

Background Neuroblastoma (NB) is the most common solid extracranial paediatric tumour.
Genome-wide association studies have driven the discovery of common risk variants, but no …

Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which
about one-third are resistant to current treatments. Here, we report a trans-ethnic GWAS …

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 …

Background Adolescent idiopathic scoliosis (AIS), the predominant genetic-influenced
scoliosis, results in spinal deformities without vertebral malformations. However, the …

Background Epilepsy has a genetic predisposition, yet causal factors and the dynamics of
the immune environment in epilepsy are not fully understood. Methods We analyzed …