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Updated: Jan 17, 2026

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Late-onset Vitamin B6-dependent epilepsy caused by compound heterozygous pathogenic PLPBP variants

Sadao Nakamura1, Yasutsugu Chinen2, Hirotaka Minema3

  • 1Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, Nishihara, Okinawa, Japan.

European Journal of Medical Genetics
|September 21, 2025
PubMed
Abstract

Keywords:
PLPBPPyridoxinVitamin B6-dependent epilepsy

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