Linked Life Data

19142996

Source:http://linkedlifedata.com/resource/pubmed/id/19142996

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2009-6-3
pubmed:abstractText
Folinic acid-responsive seizures and pyridoxine-dependent epilepsy are two treatable causes of neonatal epileptic encephalopathy. The former is diagnosed by characteristic peaks on cerebrospinal fluid (CSF) monoamine metabolite analysis; its genetic basis has remained elusive. The latter is due to alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase deficiency, associated with pathogenic mutations in the ALDH7A1 (antiquitin) gene. We report two patients whose CSF showed the marker of folinic acid-responsive seizures, but who responded clinically to pyridoxine. We performed genetic and biochemical testing of samples from these patients, and seven others, to determine the relation between these two disorders.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1531-8249
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
65
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
550-6
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
pubmed:affiliation
Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado at Denver, CO, USA. gallagher.renata@tchden.org
pubmed:publicationType
Journal Article, Case Reports