Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis-Reference-Cited by-同舟云学术

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

Published:2007-08 Issue:4 Volume:91 Page:384-389
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

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

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference23 articles.

1. Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine;Hunt;Pediatrics,1954

2. Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient;Baxter;Dev. Med. Child Neurol.,1996

3. Pyridoxine-dependent seizures: findings from recent studies pose new questions;Gospe;Pediatr. Neurol.,2002

4. A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31;Cormier-Daire;Am. J. Hum. Genet.,2000

5. Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy;Plecko;Ann. Neurol.,2000

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