early-onset epilepsy 3

An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the ATP6V0C gene on chromosome 16p13.3.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Delayed speech and language development
• Absent speech
• Mild intellectual disability
• Moderate intellectual disability
• Developmental regression
• Febrile seizure (within the age range of 3 months to 6 years)
• Focal impaired awareness seizure
• Profound intellectual disability
• Generalized non-motor (absence) seizure

Also known as: EPEO3; early-onset epilepsy 3 with or without developmental delay