KEGG DISEASE: Early-onset vitamin B6-dependent epilepsy

KEGG

DISEASE: Early-onset vitamin B6-dependent epilepsy

Entry

H02250                      Disease

Name

Early-onset vitamin B6-dependent epilepsy

Supergrp

Early-onset epilepsy [DS:H02696]

Description

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.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Epilepsy or seizures
   8A61  Genetic or presumed genetic syndromes primarily expressed as epilepsy
    H02250  Early-onset vitamin B6-dependent epilepsy

Gene

PLPBP [HSA:11212] [KO:K06997]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

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

Title

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.

Journal

Am J Hum Genet 99:1325-1337 (2016)
DOI:10.1016/j.ajhg.2016.10.011

Reference

Authors

Tremino L, Forcada-Nadal A, Rubio V

Title

Insight into vitamin B6 -dependent epilepsy due to PLPBP (previously PROSC) missense mutations.

Journal

Hum Mutat 39:1002-1013 (2018)
DOI:10.1002/humu.23540

LinkDB

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