developmental and epileptic encephalopathy 104

A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q2

A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21.

Signs and symptoms

• Delayed speech and language development
• Delayed ability to walk
• Focal impaired awareness seizure
• Seizure
• Global developmental delay
• Intellectual disability
• Bilateral tonic-clonic seizure
• Delayed ability to roll over
• Hypsarrhythmia
• Poor suck

Also known as: DEE104; early infantile epileptic encephalopathy 104