Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185 T > C variant in the MT-ATP6 gene: Expanding the clinical spectrum-Reference-Cited by-同舟云学术

Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185 T > C variant in the MT-ATP6 gene: Expanding the clinical spectrum

Published:2020-01 Issue:1 Volume:42 Page:69-72
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Takada Rei,Tozawa Takenori,Kondo Hidehito,Kizaki Zenro,Kishita Yoshihito,Okazaki Yasushi,Murayama Kei,Ohtake Akira,Chiyonobu Tomohiro

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference11 articles.

1. A multicenter study on Leigh syndrome: disease course and predictors of survival;Sofou;Orphanet J Rare Dis,2014

2. Two new mutations in the MTATP6 gene associated with Leigh syndrome;Moslemi;Neuropediatrics,2005

3. Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9185 of mitochondrial DNA;Castagna;Am J Med Genet A,2007

4. Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene;Childs;Neuropediatrics,2007

5. Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m.9185T>C;Saneto;Mitochondrion,2010

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1. Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase;Physiological Research;2024-08-31

2. Infantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case Series;Pediatric Neurology;2024-08

3. Mitochondria in Early Life;Current Pediatric Reviews;2023-11

4. Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era;Genes;2023-07-27

5. ACTH for epileptic spasms in Leigh syndrome with SLC19A3 mutation can induce status dystonicus;Epileptic Disorders;2022-02