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Article

Pyridoxine responsiveness in novel mutations of the PNPO gene.

Neurology - 22 Apr 2014

Plecko Barbara, Paul Karl, Mills Philippa, Clayton Peter, Paschke Eduard, Maier Oliver, Hasselmann Oswald, Schmiedel Gudrun, Kanz Simone, Connolly Mary, Wolf Nicole, Struys Eduard, Stockler Sylvia, Abela Lucia, Hofer Doris

Abstract excerpt

OBJECTIVE: To determine whether patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene may have PNPO mutations. METHODS: We sequenced the PNPO gene in 31 patients who fulfilled the above-mentioned criteria. RESULTS: We were able to identify 11 patients carrying 3 novel mutations of the PNPO gene. In 6 families, a homozygous missense...

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Source

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Identifiers

PMID: 24658933
DOI: 10.1212/WNL.0000000000000344
PMCID: PMC4001193

Genes

PNPO

Variants

Provenance

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