Long-Term Treatment Outcome of two Patients With Pyridoxine-Dependent Epilepsy Caused byALDH7A1 Mutations-Reference-Cited by-同舟云学术

Long-Term Treatment Outcome of two Patients With Pyridoxine-Dependent Epilepsy Caused byALDH7A1 Mutations

Published:2014-05-01 Issue:5 Volume:30 Page:648-653
ISSN:0883-0738
Container-title:Journal of Child Neurology
language:en
Short-container-title:J Child Neurol

Author:

Nasr Enas¹,Mamak Eva²,Feigenbaum Anette¹³,Donner Elizabeth J.⁴,Mercimek-Mahmutoglu Saadet¹⁵

Affiliation:

1. Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada

2. Department of Psychology, The Hospital for Sick Children, Toronto, Canada

3. Department of Pediatrics & Biochemical Genetics, Rady Children's Hospital-San Diego, University of California, San Diego, CA, USA

4. Division of Neurology, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada

5. Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada

Abstract

Pyridoxine-dependent epilepsy is an autosomal recessively inherited disorder of lysine catabolism caused by mutations in the ALDH7A1 gene. We report 2 patients with normal neurocognitive outcome (full-scale IQ of 108 and 74) and their more than 10 years’ treatment outcome on pyridoxine monotherapy. Both patients had specific borderline impairments in visual processing speed. More long-term treatment outcome reports will increase our knowledge about the natural history of the disease.

Publisher

SAGE Publications

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/0883073814531331

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