The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy-Reference-Cited by-同舟云学术

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

Published:2019-02-22 Issue:2 Volume:42 Page:353-361
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Coughlin Curtis R.¹,Swanson Michael A.¹,Spector Elaine¹²,Meeks Naomi J. L.¹²,Kronquist Kathryn E.¹²,Aslamy Mezhgan¹,Wempe Michael F.³,van Karnebeek Clara D. M.⁴⁵,Gospe Sidney M.⁶⁷,Aziz Verena G.⁷,Tsai Becky P.⁸,Gao Hanlin⁸,Nagy Peter L.⁹,Hyland Keith⁹,van Dooren Silvy J. M.¹⁰,Salomons Gajja S.¹⁰,Van Hove Johan L. K.¹

Affiliation:

1. Section of Clinical Genetics and Metabolism, Department of PediatricsUniversity of Colorado School of Medicine Aurora Colorado USA

2. Molecular Genetics Laboratory, Department of Pathology and Laboratory MedicineChildren's Hospital Colorado Aurora Colorado 80045 USA

3. School of Pharmacy, Department of Pharmaceutical SciencesUniversity of Colorado, Anschutz Medical Campus Aurora Colorado 80045 USA

4. Department of Pediatrics and Clinical GeneticsAcademic Medical Centre 1105 AZ Amsterdam The Netherlands

5. Department of Pediatrics, Centre for Molecular Medicine and TherapeuticsUniversity of British Columbia Vancouver British Columbia V5Z4H4 Canada

6. Division of Pediatric Neurology, Departments of Neurology and PediatricsUniversity of Washington Seattle Washington USA

7. Seattle Children's Research Institute Seattle Washington USA

8. Fulgent Genetics Temple City California 91780 USA

9. Medical Neurogenetics Laboratories, LLC Atlanta Georgia USA

10. Department of Clinical Chemistry, Metabolic UnitVU University Medical Center & Amsterdam Neuroscience Amsterdam The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12045

Reference32 articles.

1. Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine;Hunt AD;Pediatrics,1954

2. Vitamin B6‐dependency and infantile convulsions;Scriver CR;Pediatrics,1960

3. Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry

4. Long-term outcome in pyridoxine-dependent epilepsy

5. Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome

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