| 概要 |
Early-onset vitamin B6-dependent epilepsy (EPVB6D) is an autosomal recessive disease, recently associated to mutations in PLPBP (PROSC) gene. PLPBP encodes a protein involved in pyridoxal phosphate (PLP) homeostasis. If patients are not effectively treated with vitamin B6 supplementation, they will have epilepsy with developmental delay early in life.
|
|---|
| 著者 |
Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, El Yacoubi B, Footitt E, Chong WK, Wilson LC, Prunty H, Pope S, Heales S, Lascelles K, Champion M, Wassmer E, Veggiotti P, de Crecy-Lagard V, Mills PB, Clayton PT |
|---|
