A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31

American Journal of Human Genetics

Volumn 67, Issue 4, 2000, Pages 991-993

  Cormier Daire, Valérie ^a   Dagoneau, Nathalie ^a   Nabbout, Rima ^b   Burglen, Lydie ^a   Penet, Clotilde ^a   Soufflet, Christine ^b   Desguerre, Isabelle ^b   Munnich, Arnold ^a   Dulac, Olivier ^b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HÔPITAL SAINT VINCENT DE PAUL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

PYRIDOXINE;

ARTICLE; CHROMOSOME 5Q; EPILEPSY; GENE LOCUS; GENE MAPPING; GENERALIZED EPILEPSY; GENETIC LINKAGE; HUMAN; PRIORITY JOURNAL;

EID: 0033794957     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/303087     Document Type: Article

References (12)

1. Glutamate in pyridoxine-dependent epilepsy: Neurotoxic glutamate concentration in the cerebrospinal fluid and its normalization by pyridoxine
2. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
3. A comprehensive genetic map on the human genome based on 5,264 microsatellites
4. Pyridoxine dependency: Report of a case of intractable convulsions in an infant controlled by pyridoxine
5. Integrated physical mapping and transcript map of 5q31.3-qter
6. Strategies for multilinkage analysis in humans
7. Vitamin B6-dependent seizures: Pathology and chemical findings in brain
8. Pyridoxine dependent-epilepsy: A suggestive electroclinical pattern
9. Disorders of β- and γ-amino acids in free and peptide-linked forms
10. Glutamic acid decarboxylase (GAD) in mammalian tissue outside the central nervous system and its possible relevance to hereditary vitamin B6 dependency with seizures
11. Signs of pyridoxine dependency manifest at birth in siblings
12. Vitamin B6 dependency of glutamic acid decarboxylase in the kidney from a patient with vitamin B-6 dependent convulsion