Výsledky vyhledávání - Nair, Umesh

Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes Autor Li, Xiaoyang, Zheng, Yongsheng, Li, Shaoyuan, Nair, Umesh, Sun, Chong, Zhao, Chongbo, Lu, Jiahong, Zhang, Victor Wei, Maljevic, Snezana, Petrou, Steven, Lin, Jie

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A targeted resequencing gene panel for focal epilepsy Autor Hildebrand, Michael S., Myers, Candace T., Carvill, Gemma L., Regan, Brigid M., Damiano, John A., Mullen, Saul A., Newton, Mark R., Nair, Umesh, Gazina, Elena V., Milligan, Carol J., Reid, Christopher A., Petrou, Steven, Scheffer, Ingrid E., Berkovic, Samuel F., Mefford, Heather C.

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KCNT1 gain-of-function in two epilepsy phenotypes is reversed by quinidine Autor Milligan, Carol J., Li, Melody, Gazina, Elena V., Heron, Sarah E., Nair, Umesh, Trager, Chantel, Reid, Christopher A., Venkat, Anu, Younkin, Donald P., Dlugos, Dennis J., Petrovski, Slavé, Goldstein, David B., Dibbens, Leanne M., Scheffer, Ingrid E., Berkovic, Samuel F, Petrou, Steven

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Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations Autor Cameron, Jillian M., Maljevic, Snezana, Nair, Umesh, Aung, Ye Htet, Cogné, Benjamin, Bézieau, Stéphane, Blair, Edward, Isidor, Bertrand, Zweier, Christiane, Reis, André, Koenig, Mary Kay, Maarup, Timothy, Sarco, Dean, Afenjar, Alexandra, Huq, A. H. M. Mahbubul, Kukolich, Mary, Billette de Villemeur, Thierry, Nava, Caroline, Héron, Bénédicte, Petrou, Steven, Berkovic, Samuel F.

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Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy Autor McTague, Amy, Nair, Umesh, Malhotra, Sony, Meyer, Esther, Trump, Natalie, Gazina, Elena V., Papandreou, Apostolos, Ngoh, Adeline, Ackermann, Sally, Ambegaonkar, Gautam, Appleton, Richard, Desurkar, Archana, Eltze, Christin, Kneen, Rachel, Kumar, Ajith V., Lascelles, Karine, Montgomery, Tara, Ramesh, Venkateswaran, Samanta, Rajib, Scott, Richard H., Tan, Jeen, Whitehouse, William, Poduri, Annapurna, Scheffer, Ingrid E., Chong, W.K. “Kling”, Cross, J. Helen, Topf, Maya, Petrou, Steven, Kurian, Manju A.

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