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Article

Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis.

Molecular genetics and metabolism - 1 Aug 2007

Kanno Junko, Kure Shigeo, Narisawa Ayumi, Kamada Fumiaki, Takayanagi Masaru, Yamamoto Katsuya, Hoshino Hisao, Goto Tomohide, Takahashi Takao, Haginoya Kazuhiro, Tsuchiya Shigeru, Baumeister Fritz A M, Hasegawa Yuki, Aoki Yoko, Yamaguchi Seiji, Matsubara Yoichi

Abstract excerpt

Pyridoxine dependent seizure (PDS) is a disorder of neonates or infants with autosomal recessive inheritance characterized by seizures, which responds to pharmacological dose of pyridoxine. Recently, mutations have been identified in the ALDH7A1 gene in Caucasian families with PDS. To elucidate f...

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Identifiers

PMID: 17433748
DOI: 10.1016/j.ymgme.2007.02.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17433748-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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