Cargando…

Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations

Background: Leigh syndrome is a mitochondrial cytopathy that presents as a neurodegenerative disease with apparent manifestation in the central nervous system. The aim of the present study was to describe its dominant neurological clinical features and analyze data related to epilepsy in Leigh syndr...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lee, Sunho, Na, Ji-Hoon, Lee, Young-Mock
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6518976/ https://www.ncbi.nlm.nih.gov/pubmed/31139141 http://dx.doi.org/10.3389/fneur.2019.00496

Ejemplares similares

Commentary: Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations
por: Finsterer, Josef
Publicado: (2019)

Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation
por: Na, Ji-Hoon, et al.
Publicado: (2021)

Clinical Characteristics of Early-Onset and Late-Onset Leigh Syndrome
por: Hong, Chan-Mi, et al.
Publicado: (2020)

Overlapping Leigh Syndrome/Myoclonic Epilepsy With Ragged Red Fibres in an Adolescent Patient With a Mitochondrial DNA A8344G Mutation
por: Shen, Cunzhou, et al.
Publicado: (2018)

Novel mutation in mitochondrial DNA in 2 siblings with Leigh syndrome
por: Veerapandiyan, Aravindhan, et al.
Publicado: (2016)

LEIGH SYNDROME: A CASE REPORT WITH A MITOCHONDRIAL DNA MUTATION
por: Lopes, Tânia, et al.
Publicado: (2018)

A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene
por: Li, Tao-Ran, et al.
Publicado: (2019)

Addendum: A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene
por: Li, Tao-Ran, et al.
Publicado: (2019)

Clinical, Neuroimaging, and Pathological Analyses of 13 Chinese Leigh Syndrome Patients with Mitochondrial DNA Mutations
por: Yu, Xiao-Lin, et al.
Publicado: (2018)

Correlation of Serum Biomarkers and Magnetic Resonance Spectroscopy in Monitoring Disease Progression in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Due to mtDNA A3243G Mutation
por: Lee, Ha Neul, et al.
Publicado: (2018)

Leigh Syndrome and SURF1 Gene Presenting with Febrile Seizure
por: Panda, Prateek Kumar, et al.
Publicado: (2021)

Leigh map: A novel computational diagnostic resource for mitochondrial disease
por: Rahman, Joyeeta, et al.
Publicado: (2017)

Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes/Leigh Overlap Syndrome Due to Variant m.13513G>A in MT-ND5
por: Finsterer, Josef, et al.
Publicado: (2022)

Effective application of corpus callosotomy in pediatric intractable epilepsy patients with mitochondrial dysfunction
por: Na, Ji-Hoon, et al.
Publicado: (2022)

A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report
por: Almudhry, Montaha, et al.
Publicado: (2023)

Leigh-Like Syndrome With a Novel, Complex Phenotype Due to m.10191T>C in Mt-ND3
por: Newstead, Shaundra M, et al.
Publicado: (2022)

Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome
por: Uittenbogaard, Martine, et al.
Publicado: (2021)

Mitochondrial Oxidative Stress Mediates Bradyarrhythmia in Leigh Syndrome Mitochondrial Disease Mice
por: Chen, Biyi, et al.
Publicado: (2023)

Leigh syndrome associated with TRMU gene mutations
por: Sala-Coromina, Júlia, et al.
Publicado: (2020)

m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome
por: Jean, Jeffrey, et al.
Publicado: (2022)

Volatile anaesthetic toxicity in the genetic mitochondrial disease Leigh syndrome
por: Spencer, Kira A., et al.
Publicado: (2023)

MELAS/LS Overlap Syndrome Associated With Mitochondrial DNA Mutations: Clinical, Genetic, and Radiological Studies
por: Wei, Yanping, et al.
Publicado: (2021)

Case Report: Mitochondrial Encephalomyopathy Presents as Epilepsy, Ataxia, and Dystonia With a Rare Mutation in MT-TW
por: Wang, Shuang, et al.
Publicado: (2021)

Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome
por: Wang, Junling, et al.
Publicado: (2021)

Effective and safe diet therapies for Lennox-Gastaut syndrome with mitochondrial dysfunction
por: Na, Ji-Hoon, et al.
Publicado: (2020)

Mitochondrial Photobiomodulation as a Neurotherapeutic Strategy for Epilepsy
por: Cardoso, Fabrízio dos Santos, et al.
Publicado: (2022)

Corrigendum: Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome
por: Wang, Junling, et al.
Publicado: (2021)

KL1333, a Novel NAD(+) Modulator, Improves Energy Metabolism and Mitochondrial Dysfunction in MELAS Fibroblasts
por: Seo, Kang-Sik, et al.
Publicado: (2018)

Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA
por: Habbane, Mouna, et al.
Publicado: (2020)

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis
por: Hayhurst, Hannah, et al.
Publicado: (2019)

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis
Publicado: (2019)

Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL
por: Borna, Nurun Nahar, et al.
Publicado: (2020)

Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation
por: Chuquilin, Miguel, et al.
Publicado: (2016)

Mitochondrial Proteome of Affected Glutamatergic Neurons in a Mouse Model of Leigh Syndrome
por: Gella, Alejandro, et al.
Publicado: (2020)

Acarbose suppresses symptoms of mitochondrial disease in a mouse model of Leigh Syndrome
por: Bitto, Alessandro, et al.
Publicado: (2020)

Leigh syndrome with atypical cerebellar lesions
por: Veiga, Marcos Gil Alberto da, et al.
Publicado: (2019)

An interesting case of Leigh-like syndrome
por: Bharani, K., et al.
Publicado: (2012)

MELAS or Leigh syndrome, that’s the question
por: Finsterer, Josef
Publicado: (2021)

Editorial: Epilepsy syndromes: pathophysiology and managements
por: Feng, Hua-Jun, et al.
Publicado: (2023)

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome
por: Simon, Mariella, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_4rrq5temfuggiu7733s97dnn7d