developmental and epileptic encephalopathy 38

A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound hete

A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42.

Signs and symptoms

• Axial hypotonia
• Hypsarrhythmia
• Status epilepticus
• Developmental regression
• Dystonia
• Profound intellectual disability
• Poor suck
• Ataxia
• Gastroesophageal reflux
• Profound global developmental delay

Also known as: DEE38; early infantile epileptic encephalopathy 38