familial focal epilepsy with variable foci 4

A familial focal epilepsy with variable foci that is characterized by onset of focal seizures in the first years of life and that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24.

Signs and symptoms

• Small face
• Hypotonia
• Abnormal autonomic nervous system physiology
• Focal-onset seizure
• Focal impaired awareness seizure
• Bilateral tonic-clonic seizure
• Borderline intellectual disability
• Delayed speech and language development
• Simple febrile seizure
• Clonic seizure