developmental and epileptic encephalopathy 98

A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23.

Signs and symptoms

• Global developmental delay
• Hypotonia
• Focal-onset seizure
• Secondary microcephaly
• Refractory status epilepticus
• Bilateral tonic-clonic seizure
• Cerebellar atrophy
• Thin corpus callosum
• Perisylvian polymicrogyria
• Reduced eye contact

Also known as: DEE98; early infantile epileptic encephalopathy 98