episodic ataxia type 9

Term ID

DOID:0060965

Synonyms

Definition

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. https://pubmed.ncbi.nlm.nih.gov/30928199/

References

• MIM:618924

Ontology

Human Disease   ( DOID:0060965 )