Cerebral Palsy Phenotypes in Genetic Epilepsies.

ABSTRACT:

Background

Although there are established connections between genetic epilepsies and neurodevelopmental disorders like intellectual disability, the presence of cerebral palsy (CP) in genetic epilepsies is undercharacterized. We performed a retrospective chart review evaluating the motor phenotype of patients with genetic epilepsies.

Methods

Patients were ascertained through a research exome sequencing study to identify genetic causes of epilepsy. We analyzed data from the first 100 individuals with molecular diagnoses. We determined motor phenotype by reviewing medical records for muscle tone and motor function data. We characterized patients according to CP subtypes: spastic diplegic, spastic quadriplegic, spastic hemiplegic, dyskinetic, hypotonic-ataxic.

Results

Of

SUBMITTER: Srivastava S 

PROVIDER: S-EPMC11418751 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature