Results 41 to 50 of about 376,481 (188)

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

New variant in the FBXL4 gene – leading to mitochondrial DNA depletion syndrome

Journal of Pediatric and Neonatal Individualized Medicine
Defects in the mitochondrial DNA (mtDNA) cause mtDNA depletion syndrome (MTDPS), a subclass of mitochondrial disorders that are genetically and phenotypically heterogeneous.
Carolina Ferreira Gonçalves, Patrícia Lipari Pinto, Ana Raquel Claro, Joana Coelho, Sofia Quintas, Márcia Rodrigues, Paula Costa, Ana Margalha Miranda, Mónica Rebelo, Célia Nogueira, Patrícia Janeiro, Ana Gaspar   +11 more
doaj   +1 more source

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 more
wiley   +1 more source

Mitochondrial Encephalopathy and Cytochrome C

Pediatric Neurology Briefs, 1997
Benefits from treatment of mitochondrial encephalomyopathy (MEM) with cytochrome C (6.25 mg) and vitamins Bl (25 mg) and B2 (12.5 mg), in daily injections, are reported from Osaka University Medical School and other centers in Japan.
J Gordon Millichap
doaj   +1 more source

Non‐Alzheimer Aβ deposits in the human CNS: Implications with hypoxia and related conditions

Brain Pathology, EarlyView.
An Aβ deposit in a non‐Alzheimer's brain from an individual who experienced hypoxia/energy failure. Abstract We recently reported the deposition of Aβ in the frontal cortex of individuals who died of acute coronavirus disease 2019 (COVID‐19), or who did not have COVID‐19 but had respiratory distress, or infants with severe cardiac malformations.
Esma Karlovich, David S. Priemer, Charles Harker Rhodes, Daniel P. Perl, Kurenai Tanji, James E. Goldman   +5 more
wiley   +1 more source

Framework for headache management in pediatric patients with stroke and cerebrovascular lesions: A narrative review

Headache: The Journal of Head and Face Pain, EarlyView.
Abstract Objective To present a practical, evidence‐based framework for the management of headache disorders in pediatric patients with prior stroke or underlying cerebral vascular lesions, with particular attention to safety and efficacy of pharmacologic and non‐pharmacologic therapies.
Allison C. Hyland, Samuel J. Belfer, Christine K. Fox, Samantha L. Irwin, Rachel Vassar, Ann Oh, Sruthi Ilangovan, Amy A. Gelfand   +7 more
wiley   +1 more source

Two novel SUCLA2 variants cause mitochondrial DNA depletion syndrome, type 5 in two siblings

Frontiers in Neurology
Mitochondrial DNA depletion syndrome (MDS), characterized by succinate-CoA ligase deficiency and loss of mitochondrial DNA (mtDNA), is caused by specific variants in nuclear genes responsible for mtDNA maintenance.
Xiaohuan Zhang, Xiaohuan Zhang, Guo Zhang, Li Cao, Li Cao, Wenjing Zhou, Wenjing Zhou, Chang Tan, Chang Tan, Shi Ma, Shi Ma, Jiyun Yang, Jiyun Yang   +12 more
doaj   +1 more source

Perianesthetic Complications in Genetic Mitochondrial Disease: A Review of Case Reports

Pediatric Anesthesia, Volume 36, Issue 10, Page 1217-1230, October 2026.
ABSTRACT Background Genetic mitochondrial diseases (GMDs) are a large group of genetically and clinically heterogeneous disorders caused by defects in genes encoding mitochondrial components. GMDs are grouped into named syndromes based on clinical presentation, for example, Leigh syndrome (LS).
Brittany M. Johnson, Simon C. Johnson
wiley   +1 more source

Altered stimulus frequency and intensity dependence of the somatosensory evoked potential in rats after acute application of two mitochondrial toxins [PDF]

, 2009
Mitochondrial toxins are a special group of toxicants with nervous system ef TRACT - fects. The resulting nervous system damage could be detected and followed-up by means of functional biomarkers but these still have to be worked out.
Papp, András, Takács, Sz., Papp András, Takács Szabolcs, Bankó, S., Bankó Sarolta, Takács Szabolcs Ferenc   +6 more
core   +1 more source

Metabolic effects of bezafibrate in mitochondrial disease

EMBO Molecular Medicine, 2020
Mitochondrial disorders affect 1/5,000 and have no cure. Inducing mitochondrial biogenesis with bezafibrate improves mitochondrial function in animal models, but there are no comparable human studies. We performed an open‐label observational experimental
Hannah Steele, Aurora Gomez‐Duran, Angela Pyle, Sila Hopton, Jane Newman, Renae J Stefanetti, Sarah J Charman, Jehill D Parikh, Langping He, Carlo Viscomi, Djordje G Jakovljevic, Kieren G Hollingsworth, Alan J Robinson, Robert W Taylor, Leonardo Bottolo, Rita Horvath, Patrick F Chinnery   +16 more
doaj   +1 more source