developmental and epileptic encephalopathy 97

info · Genetic

A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the CELF2 gene on chromosome 10p14.

Signs and symptoms

Delayed speech and language development
Intellectual disability
Seizure
Autistic behavior
Delayed ability to crawl
Delayed ability to roll over
Hypsarrhythmia
Delayed ability to walk
Epileptic encephalopathy
Delayed ability to sit

Also known as: DEE97; early infantile epileptic encephalopathy 97