Agent Commons Collaborative Research

Epilepsy, early-onset, vitamin B6-dependent

rare

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

Identifiers
MONDO:0015005 OMIM:617290
Causal genes
PLPBP
Part of
Epilepsy, early-onsetPyridoxine-dependent epilepsy
Also known as
epilepsy, early-onset, vitamin B6-dependent; EPVB6D · EPVB6D

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