Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene-Reference-Cited by-同舟云学术

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene

Published:2006 Issue:1 Volume:28 Page:19-26
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Plecko Barbara,Paul Karl,Paschke Eduard,Stoeckler-Ipsiroglu Sylvia,Struys Eduard,Jakobs Cornelis,Hartmann Hans,Luecke Thomas,di Capua Matteo,Korenke Christoph,Hikel Christiane,Reutershahn Elke,Freilinger Michael,Baumeister Fritz,Bosch Friedrich,Erwa Wolfgang

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference15 articles.

1. Pyridoxine-dependent and pyridoxine-responsive seizures

2. Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures

3. A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31

4. Current perspectives on pyridoxine-dependent seizures

5. Pyridoxine-dependent seizures: findings from recent studies pose new questions

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