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Publication year
2007Source
Annals of Neurology, 62, 4, (2007), pp. 414-8ISSN
Publication type
Article / Letter to editor
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Organization
Neurology
Paediatrics - OUD tm 2017
Journal title
Annals of Neurology
Volume
vol. 62
Issue
iss. 4
Page start
p. 414
Page end
p. 8
Subject
UMCN 3.1: Neuromuscular development and genetic disordersAbstract
Recently, alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase deficiency was shown to cause pyridoxine-dependent epilepsy in a considerable number of patients. alpha-AASA dehydrogenase deficiency is an autosomal recessive disorder characterized by a neonatal-onset epileptic encephalopathy in which seizures are resistant to antiepileptic drugs but respond immediately to the administration of pyridoxine (OMIM 266100). Increased plasma and urinary levels of alpha-AASA are associated with pathogenic mutations in the alpha-AASA dehydrogenase (ALDH7A1/antiquitin) gene. Here, we report an intriguing "silent" mutation in ALDH7A1, a novel missense mutation and a founder mutation in a Dutch cohort (10 patients) with alpha-AASA dehydrogenase deficiency.
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- Electronic publications [122508]
- Faculty of Medical Sciences [90373]
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