Division of Neurology News

Researchers identified a novel gene associated with neurodevelopmental disorders and epilepsy. The study leveraged large data depositories, state-of-the-art computational techniques and community-based gene matching to identify this new gene.

Researchers at Children’s Hospital of Philadelphia (CHOP) discovered a previously unrecognized brain event following electroconvulsive therapy (ECT), the most clinically effective treatment for severe, medication-resistant depression. The findings, which could provide additional insight into the biological mechanism of ECT, were recently reported in the journal Nature Communications.

Researchers have found that in rare instances, variants responsible for SYNGAP1-related disorders – a group of disorders characterized by developmental delay and often associated with epilepsy – can be inherited from a parent, which could help influence family planning, genetic variant interpretation, and other aspects of clinical care.

Researchers at Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania announced the first ever direct approach to the depletion and replacement of microglia, the native immune cells of the central nervous system (CNS).

Researchers discovered increased incidence of specific seizures both in infancy and later in childhood that could help explain disease trajectory and set important clinical trial targets

In a preclinical study, researchers at Children’s Hospital of Philadelphia (CHOP) demonstrated a novel gene therapy with potentially increased effectiveness and safety for the treatment for metachromatic leukodystrophy (MLD), a rare disease in young children characterized by the deficient activity of a critical enzyme. Without effective treatment, MLD leads to rapidly declining neurological skills in young children and is potentially fatal. The promising findings were published in the journal Molecular Therapy Nucleic Acids.

CHOP’s Leukodystrophy Center, one of the leading centers of its kind in the nation, now offers Lenmeldy to treat children with metachromatic leukodystrophy (MLD). 

This case study discusses when primary care professionals should refer their patients to a specialist.

Researchers at Children’s Hospital of Philadelphia (CHOP) announced the results of a new study highlighting significant genetic links in speech and language disorders in children.

New method, bolstered by a study of 89 million points of data, could help patients receive precision care months or years earlier