developmental and epileptic encephalopathy 29

A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abno

A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22.

Signs and symptoms

• Cerebral atrophy
• Microcephaly
• Orofacial dyskinesia
• Limb dystonia
• Global developmental delay
• Areflexia
• Chorea
• Myoclonic seizure
• Failure to thrive
• Rocker bottom foot

Also known as: DEE29; early infantile epileptic encephalopathy 29