early-onset vitamin B6-dependent epilepsy 4

Term ID

DOID:0070519

Synonyms

• AASA dehydrogenase deficiency
• antiquitin deficiency
• EPEO4
• PDE-ALDH7A1

Definition

A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2. (3)

References

• OMIM:266100

Ontology

Human Disease   ( DOID:0070519 )