developmental and epileptic encephalopathy 41

A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that ha

A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13.

Signs and symptoms

• Myoclonic seizure
• EEG abnormality
• Global developmental delay
• Epileptic encephalopathy
• Delayed CNS myelination
• Profound intellectual disability
• Focal tonic seizure
• Cerebral atrophy
• Hypoplasia of the corpus callosum
• Generalized tonic seizure

Also known as: DEE41; early infantile epileptic encephalopathy 41