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Article

Exploring the clinical, neuroimaging, and genetic spectrum of PLPBP deficiency: multicenter case series and systematic review.

Molecular genetics and metabolism - 1 Mar 2026

Alsini Hanin, Al-Otaibi Ali, Khan Imran Ali, Hundallah Khalid, Tabarki Brahim, Alfadhel Majid

Abstract excerpt

OBJECTIVE: To describe the phenotype, genotype, neuroimaging features, and outcome of PLPBP-related vitamin B6-dependent epilepsies. We present a systematic review, along with a multicenter case series of patients with PLPBP deficiency. METHODS: We collected individual data on clinical, radiological, genetic, and outcomes for a multicenter case series (n = 8) and all previously published cases (n = 46). We...

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Identifiers

PMID: 41671913
DOI: 10.1016/j.ymgme.2026.109764

Genes

PLPBP

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