epilepsy, early-onset, vitamin B6-dependent
A pyridoxine-dependent epilepsy that has material basis in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23.
MONDO:0009945
pyridoxine-dependent epilepsy
is_a
MONDO:0957599
epilepsy, early-onset
is_a
EPVB6D
exact
epilepsy, early-onset, vitamin B6-dependent
exact
epilepsy, early-onset, vitamin B6-dependent; EPVB6D
exact
SPAC644.09