Conditions / Genetic
developmental and epileptic encephalopathy 93
info · Genetic
A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31.
Signs and symptoms
- Bilateral tonic-clonic seizure
- Intellectual disability
- Febrile seizure (within the age range of 3 months to 6 years)
- Global developmental delay
- Microcephaly
- Hypsarrhythmia
- Inability to walk
- Hypermetropia
- Hypotonia
- Infantile spasms
Also known as: DEE93; IECEE3; infantile or early childhood epileptic encephalopathy 3