Genetic etiology of progressive pediatric neurological disorders.

ABSTRACT:

Background

The aim of the study was to characterize molecular diagnoses in patients with childhood-onset progressive neurological disorders of suspected genetic etiology.

Methods

We studied 48 probands (age range from newborn to 17 years old) with progressive neurological disorders of unknown etiology from the largest pediatric neurology clinic in Finland. Phenotypes included encephalopathy (54%), neuromuscular disorders (33%), movement disorders (11%), and one patient (2%) with hemiplegic migraine. All patients underwent whole-exome sequencing and disease-causing genes were analyzed.

Results

We found 20 (42%) of the patients to have variants in genes previously associated with disease. Of these, 12 were previously reported disease-causing variants, whereas eight pati

SUBMITTER: Aaltio J 

PROVIDER: S-EPMC10798881 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature