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Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant

MedGen UID:
976783
•Concept ID:
CN293409
•
Disease or Syndrome
Synonyms: AASA dehydrogenase deficiency; EPD; Epd; epilepsy, pyridoxine-dependent; pyridoxine dependency with seizures; pyridoxine-dependent epilepsy; pyridoxine-dependent epilepsy caused by ALDH7A1 mutant
 
Monarch Initiative: MONDO:0020741

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.
Pena IA, Roussel Y, Daniel K, Mongeon K, Johnstone D, Weinschutz Mendes H, Bosma M, Saxena V, Lepage N, Chakraborty P, Dyment DA, van Karnebeek CDM, Verhoeven-Duif N, Bui TV, Boycott KM, Ekker M, MacKenzie A
Genetics 2017 Dec;207(4):1501-1518. Epub 2017 Oct 23 doi: 10.1534/genetics.117.300137. PMID: 29061647Free PMC Article

Clinical prediction guides

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.
Pena IA, Roussel Y, Daniel K, Mongeon K, Johnstone D, Weinschutz Mendes H, Bosma M, Saxena V, Lepage N, Chakraborty P, Dyment DA, van Karnebeek CDM, Verhoeven-Duif N, Bui TV, Boycott KM, Ekker M, MacKenzie A
Genetics 2017 Dec;207(4):1501-1518. Epub 2017 Oct 23 doi: 10.1534/genetics.117.300137. PMID: 29061647Free PMC Article

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