Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)-Reference-Cited by-同舟云学术

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

Published:2010-06-16 Issue:7 Volume:133 Page:2148-2159
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Mills Philippa B.,Footitt Emma J.,Mills Kevin A.,Tuschl Karin,Aylett Sarah,Varadkar Sophia,Hemingway Cheryl,Marlow Neil,Rennie Janet,Baxter Peter,Dulac Olivier,Nabbout Rima,Craigen William J.,Schmitt Bernhard,Feillet François,Christensen Ernst,De Lonlay Pascale,Pike Mike G.,Hughes M. Imelda,Struys Eduard A.,Jakobs Cornelis,Zuberi Sameer M.,Clayton Peter T.

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/133/7/2148/16696467/awq143.pdf

Reference28 articles.

1. Les convulsions pyridoxino-dépendantes – a propos d’un noveau cas;Adam;Pédiatrie,1972

2. Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry;Basura;Eur J Pediatr,2009

3. Pyridoxine dependent/responsive seizures;Baxter,2001

4. Prevalence of aldehyde dehydrogenase7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients;Bennett;Epilepsia,2009

5. B6-responsive disorders: a model of vitamin dependency;Clayton;J Inher Metab Dis,2006

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