Cerebral palsy is a clinical descriptor covering a diverse group of permanent, non-
degenerative disorders of motor function. Around one-third of cases have now been shown …

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 …

Over the last decade, sigma-1 receptor (Sig1R) has been recognized as a valid target for the
treatment of seizure disorders and seizure-related comorbidities. Clinical trials with Sig1R …

Sequence-based genetic testing identifies causative variants in~ 50% of individuals with
developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA …

Objective To understand the etiological landscape and phenotypic differences between 2
developmental and epileptic encephalopathy (DEE) syndromes: DEE with spike–wave …

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 …

Purpose To provide an updated list of epilepsy-associated genes based on clinical-genetic
evidence. Methods Epilepsy-associated genes were systematically searched and cross …

We envision'AI scientists' as systems capable of skeptical learning and reasoning that
empower biomedical research through collaborative agents that integrate machine learning …

Background and Objectives Movement disorders (MDs) are underrecognized in the
developmental and epileptic encephalopathies (DEEs). There are now more than 800 …

Developmental and epileptic encephalopathies, the most severe group of epilepsies, are
characterized by seizures and frequent epileptiform activity associated with developmental …