Compound heterozygous variants of the <scp> <i>NARS2</i> </scp> gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome-Reference-Cited by-同舟云学术

Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome

Published:2022-06-15 Issue:8 Volume:188 Page:2466-2471
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Yagasaki Hideaki¹^ORCID,Sano Fumikazu¹,Narusawa Hiromune¹,Watanabe Daisuke¹,Kaga Yoshimi¹,Kobayashi Koji¹,Asano Yoshihiro²,Nagata Miho²,Yonei Ayumi³,Inukai Takeshi¹

Affiliation:

1. Department of Pediatrics, Faculty of Medicine University of Yamanashi Yamanashi Japan

2. Department of Cardiovascular Medicine Osaka University Graduate School of Medicine Osaka Japan

3. Department of Genetic Counseling Osaka University Hospital Osaka Japan

Funder

Japan Agency for Medical Research and Development

Saitama Medical University

Asahikawa Medical University

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62873

Reference17 articles.

1. Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes

2. Neonatal Diabetes Mellitus

3. A novel mitochondrial DNA deletion in a patient with Pearson syndrome and neonatal diabetes mellitus provides insight into disease etiology, severity and progression

Recent Advances in Neonatal Diabetes

5. Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation

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1. Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan;Pediatric Diabetes;2024-02-15

2. Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review;BMC Pediatrics;2024-02-03

3. Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review;2023-09-19

4. Progressive Mitochondrial Encephalopathy Due to the Novel Compound Heterozygous Variants c.182C>T and c.446A>AG in NARS2: A Case Report;Cureus;2023-08-23

5. Clinical and genetic analyses of premature mitochondrial encephalopathy with epilepsia partialis continua caused by novel biallelic NARS2 mutations;Frontiers in Neuroscience;2022-12-21