developmental and epileptic encephalopathy 32

A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous

A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13.

Signs and symptoms

• EEG with spike-wave complexes (2.5-3.5 Hz)
• Seizure
• Febrile seizure (within the age range of 3 months to 6 years)
• Hypotonia
• Global developmental delay
• Ataxia
• Myoclonic seizure
• Epileptic encephalopathy
• Absent speech
• Intellectual disability

Also known as: DEE32; early infantile epileptic encephalopathy 32