developmental and epileptic encephalopathy 37

A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous

A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31.

Signs and symptoms

• Absent speech
• Choreoathetosis
• Global developmental delay
• Chorea
• Severe intellectual disability
• Developmental regression
• Rigidity
• Hyperkinetic movements
• Cerebral atrophy
• Focal hemiclonic seizure

Also known as: DEE37; early infantile epileptic encephalopathy 37