检索结果 - Nishtha Joshi
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Infantile spasms and encephalopathy without preceding neonatal seizures caused by <i>KCNQ2</i> R198Q, a gain‐of‐function variant 由 J Gordon Millichap, Francesco Miceli, Michela De Maria, Cynthia Keator, Nishtha Joshi, Baouyen Tran, Maria Virginia Soldovieri, Paolo Ambrosino, Vandana Shashi, Mohamad A. Mikati, Edward C. Cooper, Maurizio Taglialatela
出版 2016Artigo -
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High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity 由 Carlos G. Vanoye, Reshma R. Desai, Zhigang Ji, Sneha Adusumilli, Nirvani Jairam, Nora F. Ghabra, Nishtha Joshi, Eryn Fitch, Katherine L. Helbig, Dianalee McKnight, Amanda Lindy, Fanggeng Zou, Ingo Helbig, Edward C. Cooper, Alfred L. George
出版 2022Artigo -
3
Neonatal nonepileptic myoclonus is a prominent clinical feature of <i><scp>KCNQ</scp>2</i> gain‐of‐function variants R201C and R201H 由 Sarah B. Mulkey, Bruria Ben‐Zeev, Joost Nicolai, John L. Carroll, Sabine Grønborg, Yong‐Hui Jiang, Nishtha Joshi, Megan L. Kelly, David A. Koolen, Mohamad A. Mikati, Kristen Park, Phillip L. Pearl, Ingrid E. Scheffer, Rebecca C. Spillmann, Maurizio Taglialatela, Silvia Vieker, Sarah Weckhuysen, Edward C. Cooper, Maria Roberta Cilio
出版 2017Artigo -
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<i>KCNQ2</i> encephalopathy 由 J Gordon Millichap, Kristen Park, Tammy N. Tsuchida, Bruria Ben‐Zeev, Lionel Carmant, Robert Flamini, Nishtha Joshi, Paul M. Levisohn, Eric D. Marsh, Srishti Nangia, Vinodh Narayanan, Xilma R. Ortiz‐González, Marc C. Patterson, Phillip L. Pearl, Brenda E. Porter, Keri Ramsey, Emily McGinnis, Maurizio Taglialatela, Molly Tracy, Baouyen Tran, Charu Venkatesan, Sarah Weckhuysen, Edward C. Cooper
出版 2016Artigo
相关主题
Epilepsy
Medicine
Anesthesia
Encephalopathy
Internal medicine
Pediatrics
Biology
Gene
Genetics
Missense mutation
Neuroscience
Phenotype
Psychiatry
Psychology
Audiology
Electroencephalography
Environmental health
Epileptic spasms
Gastroenterology
Genotype
Genotype-phenotype distinction
Loss function
Myoclonus
Neonatal encephalopathy
Population