developmental and epileptic encephalopathy 79

A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in

A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12.

Signs and symptoms

• Hypoplasia of the corpus callosum
• Seizure
• Global developmental delay
• Secondary microcephaly
• Myoclonic seizure
• Generalized hypotonia
• Bilateral tonic-clonic seizure with generalized onset
• Motor delay
• Migrating focal seizure
• Severe intellectual disability

Also known as: DEE79; early infantile epileptic encephalopathy 79