ALDH7A1 Deficiency and Pyridoxine-Dependent Epilepsy
Abstract
Researchers at University College and Great Ormond Street Hospital for Children, London, and other centers in the UK and Europe investigated the genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (PDE) by measurement of urinary alpha-aminoadipic semialdehyde (a-AASA) concentration and mutational analysis of the ALDH7A1 gene that encodes antiquitin.
DOI: https://doi.org/10.15844/pedneurbriefs-24-8-6 | Journal eISSN: 2166-6482
Language: English
Page range: 62 - 63
Published on: Aug 1, 2010
Published by: Pediatric Neurology Briefs Publishers
In partnership with: Paradigm Publishing Services
© 2010 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.