Epilepsy, early-onset, vitamin B6-dependent

Definition

A pyridoxine-dependent epilepsy that has material basis in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23.

Also known as epilepsy, early-onset, vitamin B6-dependent, epilepsy, early-onset, vitamin B6-dependent; EPVB6D, EPVB6D — per MONDO

Also identified as

• DOID 0080769 per MONDO
• OMIM 617290 per MONDO
• UMLS C4310632 per MONDO