Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Umesh Nair"'
Autor:
Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Kay Koenig, Timothy Maarup, Dean Sarco, Alexandra Afenjar, A. H. M. Mahbubul Huq, Mary Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel F. Berkovic
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1263-1272 (2019)
Abstract Objective To analyze clinical phenotypes associated with KCNC1 variants other than the Progressive Myoclonus Epilepsy‐causing variant p.Arg320His, determine the electrophysiological functional impact of identified variants and explore geno
Externí odkaz:
https://doaj.org/article/54285d5342f7454b9058aec28ec2c677
Autor:
Stéphane Bézieau, Jillian M. Cameron, Samuel F. Berkovic, Edward Blair, Snezana Maljevic, Bertrand Isidor, Bénédicte Héron, Alexandra Afenjar, Benjamin Cogné, Timothy James Maarup, Mary K. Kukolich, Dean Sarco, Steven Petrou, Mary Kay Koenig, André Reis, A.H.M. Mahbubul Huq, Umesh Nair, Thierry Billette de Villemeur, Ye Htet Aung, Caroline Nava, Christiane Zweier
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1263-1272 (2019)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology
Objective To analyze clinical phenotypes associated with KCNC1 variants other than the Progressive Myoclonus Epilepsy‐causing variant p.Arg320His, determine the electrophysiological functional impact of identified variants and explore genotype‐ph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::650069807d3481a3152165d118ab744f
https://doaj.org/article/54285d5342f7454b9058aec28ec2c677
https://doaj.org/article/54285d5342f7454b9058aec28ec2c677
Autor:
Steven Petrou, Leonid Churilov, Umesh Nair, Ingrid E. Scheffer, Melody Li, Paul A. Lightfoot, Annie Roten, Samuel F. Berkovic, Michael Ching, Saul A. Mullen, Patrick W. Carney
Publikováno v:
Neurology. 90:e67-e72
ObjectiveTo evaluate quinidine as a precision therapy for severe epilepsy due to gain of function mutations in the potassium channel gene KCNT1.MethodsA single-center, inpatient, order-randomized, blinded, placebo-controlled, crossover trial of oral
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e72f498c6f3320414e8a0298f3ef48f6
https://doi.org/10.1212/wnl.0000000000004769
https://doi.org/10.1212/wnl.0000000000004769
Autor:
Jie Lin, Jiahong Lu, Chongbo Zhao, Victor Wei Zhang, Steven Petrou, Yong-Sheng Zheng, Umesh Nair, Chong Sun, Shaoyuan Li, Snezana Maljevic, Xiaoyang Li
Publikováno v:
Ann Transl Med
BACKGROUND: KCNC1 encodes Kv3.1, a subunit of the Kv3 voltage-gated potassium channels. It is predominantly expressed in inhibitory GABAergic interneurons and cerebellar neurons. Kv3.1 channelopathy has been linked to a variety of human diseases incl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ebe45f345c7b6f68fb751a65e4c3780
https://doi.org/10.21037/atm-21-1885
https://doi.org/10.21037/atm-21-1885
Autor:
Adam L. Numis, Akash R. Patel, Anita N Datta, Umesh Nair, Elena V. Gazina, Steven Petrou, Melody Li, Tristan T. Sands, Maria Roberta Cilio, Michael S. Oldham
Publikováno v:
Epilepsia, Vol. 59, no.10, p. 1889-1898 (2018)
Objective To evaluate the clinical efficacy and safety of quinidine in patients with KCNT1-related epilepsy of infancy with migrating focal seizures (EIMFS) in the infantile period and to compare with the effect of quinidine on mutant channels in vit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::860979b3ca4a50437f83f52f23ce2850
https://pubmed.ncbi.nlm.nih.gov/30182418
https://pubmed.ncbi.nlm.nih.gov/30182418
Autor:
Saul A, Mullen, Patrick W, Carney, Annie, Roten, Michael, Ching, Paul A, Lightfoot, Leonid, Churilov, Umesh, Nair, Melody, Li, Samuel F, Berkovic, Steven, Petrou, Ingrid E, Scheffer
Publikováno v:
Neurology. 90(1)
To evaluate quinidine as a precision therapy for severe epilepsy due to gain of function mutations in the potassium channel geneA single-center, inpatient, order-randomized, blinded, placebo-controlled, crossover trial of oral quinidine included 6 pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::55a353866f91c52386896e65d8a286ac
https://pubmed.ncbi.nlm.nih.gov/29196575
https://pubmed.ncbi.nlm.nih.gov/29196575
Autor:
Donald P. Younkin, Christopher A. Reid, Carol J. Milligan, Dennis J. Dlugos, Chantel Trager, Melody Li, Steven Petrou, Sarah E. Heron, Anu Venkat, Umesh Nair, Samuel F. Berkovic, Ingrid E. Scheffer, Slavé Petrovski, David Goldstein, Elena V. Gazina, Leanne M. Dibbens
Publikováno v:
Annals of Neurology. 75:581-590
Objective Mutations in KCNT1 have been implicated in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and epilepsy of infancy with migrating focal seizures (EIMFS). More recently, a whole exome sequencing study of epileptic encephalopathie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d74c9ff6bd7ec82348498d0e80683978
https://doi.org/10.1002/ana.24128
https://doi.org/10.1002/ana.24128