Early-onset vitamin B6-dependent epilepsy
Definition:
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.
References:
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[1]. Lorena Tremiño, et al. Insight into vitamin B6 -dependent epilepsy due to PLPBP (previously PROSC) missense mutations. Hum Mutat. 2018 Jul;39(7):1002-1013. [Content Brief]
[2]. Niklas Darin, et al. Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. Am J Hum Genet. 2016 Dec 1;99(6):1325-1337. [Content Brief]
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