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Nishtha Joshi

Nishtha Joshi

Malaviya National Institute of Technology - Jaipur / India
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AD Scientific Index ID: 2003874
मालवीय राष्ट्रीय प्रौद्योगिकी संस्थान
person_outline Nishtha Joshi's MOST POPULAR ARTICLES
1-) KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients Neurology: Genetics 2 (5), e96, 2016
2-) KCNQ2-related disorders
3-) Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain‐of‐function variant Epilepsia 58 (1), e10-e15, 2017
4-) Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201H Epilepsia 58 (3), 436-445, 2017
5-) High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity JCI insight 7 (5), e156314, 2022