developmental and epileptic encephalopathy 47

A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozy

A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28.

Signs and symptoms

• Cerebellar atrophy
• Profound intellectual disability
• Multifocal epileptiform discharges
• Developmental regression
• Feeding difficulties
• Secondary microcephaly
• Limb ataxia
• Tonic seizure
• Epileptic encephalopathy
• Bilateral tonic-clonic seizure

Also known as: DEE47; early infantile epileptic encephalopathy 47