Results 81 to 90 of about 88,373 (350)

Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases

Advanced Science, EarlyView.
Mitochondrial transplantation (MTx) offers a promising therapeutic avenue for mitochondrial diseases. This review comprehensively evaluates MTx, differentiating its feasibility for mtDNA‐ and nDNA‐based disorders. It examines its potential for genetic correction, alongside inherent limitations, technical challenges, and crucial ethical considerations ...
Parmeshar Singh, Amir Tahavvori, Cyrus E. Kuschner, Blanca B. Espin, Jacob Kazmi, Sofhia V. Ramos, Tai Yin, Kei Hayashida, Kanako Ito‐Hagiwara, Yusuke Endo, Keitaro Yoshioka, Jun Hagiwara, Avijot Sohi, Alisha Oropallo, Ghania Haddad, Timmy Li, Lance B. Becker, Junhwan Kim   +17 more
wiley   +1 more source

Update on rufinamide in childhood epilepsy

Neuropsychiatric Disease and Treatment, 2011
Giangennaro CoppolaClinic of Child and Adolescent Neuropsychiatry, Medical School, University of Salerno, ItalyAbstract: Rufinamide is an orally active, structurally novel compound (1-[(2,6-difluorophenil1)methyl1]-1 hydro 1,2,3-triazole-4 carboxamide ...
Coppola G
doaj  

Risk of autism spectrum disorder in children with infantile epileptic spasms syndrome: a retrospective study in a single center in Brazil

Jornal de Pediatria
Objective: This study aimed to investigate the prevalence of autism spectrum disorder and its possible correlations with clinical characteristics in patients with infantile epileptic spasms syndrome in a single center in Brazil.
Marília Barbosa de Matos, Paulo Breno Noronha Liberalesso, Tiago dos Santos Bara, Paula Carolina Martins Alves Gomes, Bianca Simone Zeigelboim, Jair Mendes Marques, Mara L. Cordeiro   +6 more
doaj   +1 more source

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. [PDF]

, 2019
Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases ...
Accogli, Andrea, Ben-Omran, Tawfeg, Bernard, Geneviève, Chowdhury, Shimul, Crawford, John R, Dimmock, David, Friedman, Jennifer, Gleeson, Joseph G, Guerrero, Kether, Hildreth, Amber, Issa, Mahmoud Y, James, Kiely N, Kingsmore, Stephen F, Koehler, Alanna E, Lo, Wing-Sze, Mendes, Marisa I, Musaev, Damir, Nahas, Shareef, Omar, Tarek EI, Salomons, Gajja S, Smith, Desiree E, Stanley, Valentina, Tran, Luan T, Wang, Rengang, Wigby, Kristen, Wright, Meredith S, Xu, Zhiwen, Zaki, Maha S, Zhai, Liting   +28 more
core   +2 more sources

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Nutritional vitamin B12 deficiency-associated Infantile epileptic spasms syndrome: Clinico-neurophysiological presentation, response to treatment, and neurodevelopmental outcome [PDF]

, 2023
Indar Kumar Sharawat, Aparna Ramachandran, Aman Elwadhi, Prateek Kumar Panda, Prateek Kumar Panda   +4 more
openalex   +1 more source

Offering patients choices: A pilot study of interactions in the seizure clinic [PDF]

, 2011
Using conversation analysis (CA), we studied conversations between one United Kingdom-based epilepsy specialist and 13 patients with seizures in whom there was uncertainty about the diagnosis and for whom different treatment and investigational options ...
Antaki, Braddock, Britten, Brown, Buchanan, Campion, Carton, Cohen, Crawford, Drew, Drew, Drew, Elwyn, England, Ettinger, Farias, Ford, Guadagnoli, Hall-Patch, Heritage, Heritage, Howlett, Kanaan, Karnieli-Miller, Kitzinger, Lewin, Makoul, Markus Reuber, McCorry, McKenzie, Merran Toerien, Plug, Pugh, Rebecca Shaw, Reuber, Roderick Duncan, Stevenson, Stivers, Stivers, Waitzkin   +39 more
core   +1 more source

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

Status Epilepticus Manifested as Continuous Epileptic Spasms

Frontiers in Neurology, 2020
Objective: The etiology and outcome of status epilepticus with continuous epileptic spasms have not been fully understood; and only rare cases have been reported in the literature.
Jianxiang Liao, Tieshuan Huang, Myriam Srour, Yuhan Xiao, Yan Chen, Sufang Lin, Li Chen, Yan Hu, Lina Men, Jialun Wen, Bing Li, Feiqiu Wen, Lan Xiong   +12 more
doaj   +1 more source

Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. [PDF]

, 2014
Seizures are clinically significant manifestations associated with 79%-90% of patients with tuberous sclerosis complex. Often occurring within the first year of life in the form of infantile spasms, seizures interfere with neuropsychiatric, social, and ...
Fallah, Aria, Wang, Shelly
core   +2 more sources