MED23-associated refractory epilepsy successfully treated with the ketogenic diet-Reference-Cited by-同舟云学术

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MED23-associated refractory epilepsy successfully treated with the ketogenic diet

Published:2016-06-17 Issue:9 Volume:170 Page:2421-2425
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Lionel Anath C.¹,Monfared Nasim²,Scherer Stephen W.³⁴,Marshall Christian R.¹,Mercimek-Mahmutoglu Saadet²⁴

Affiliation:

1. The Centre for Applied Genomics; The Hospital for Sick Children; Toronto Canada

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

3. Department of Molecular Genetics and the McLaughlin Centre; University of Toronto; Toronto Canada

4. Genetics and Genome Biology Research Program; Research Institute; The Hospital for Sick Children; Toronto Canada

Funder

Centre for Genetic Medicine

CREMS Research Scholarship

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference14 articles.

1. Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE commission on classification and terminology, 2005-2009;Berg;Epilepsia,2010

2. Liver Med23 ablation improves glucose and lipid metabolism through modulating FOXO1 activity;Chu;Cell Res,2014

3. Intractable seizures, developmental delay, and the ketogenic diet;Harris;Semin Pediatr Neurol,2008

4. The neuropharmacology of the ketogenic diet;Hartman;Pediatr Neurol,2007

5. MED23 mutation links intellectual disability to dysregulation of immediate early gene expression;Hashimoto;Science,2011

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. MED23 pathogenic variant: genomic–phenotypic analysis;Journal of Medicine and Life;2024-05

2. Mediator complex in neurological disease;Life Sciences;2023-09

3. Brain Glutathione Increase and Seizure Burden Decrease in Patients with Intractable Epilepsy on Ketogenic Diet;Journal of Epilepsy Research;2023-06-30

4. Response to a letter to the editor;neurogenetics;2023-06-01

5. Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly;Frontiers in Neurology;2023-02-07

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