Conditions / Genetic
developmental and epileptic encephalopathy 5
info · Genetic
A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.
Signs and symptoms
- Progressive microcephaly
- Microcephaly
- Spastic tetraplegia
- Seizure
- Profound intellectual disability
- Reduced cerebral white matter volume
- Hypsarrhythmia
- Hypoplasia of the corpus callosum
- Cerebellar atrophy
- Cerebral cortical atrophy
Also known as: DEE5; early infantile epileptic encephalopathy 5