episodic ataxia type 9

info · Genetic

An episodic ataxia that is characterized by onset of ataxic episodes in the first years of life that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q23.

Signs and symptoms

Bilateral tonic-clonic seizure
Encephalopathy
Status epilepticus
Vomiting
Dystonia
Vertigo
Delayed ability to stand
Seizure
Episodic ataxia
Cerebellar edema