/epilepsy, early-onset, vitamin B6-dependent

epilepsy, early-onset, vitamin B6-dependent

Rare Disease

MONDO:0015005

Also Known As

EPVB6Depilepsy, early-onset, vitamin B6-dependentepilepsy, early-onset, vitamin B6-dependent; EPVB6D

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

Comprehensive, easy-to-understand information about this condition

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Gene data from MyGene.info • Click to view on NCBI Gene

pyridoxine-dependent epilepsy caused by ALDH7A1 mutant

MONDO:0020741

epilepsy, early-onset, with or without developmental delay

MONDO:0030005

epilepsy, early-onset, 3, with or without developmental delay

MONDO:0958196