Nishtha Joshi

<i>KCNQ2</i> encephalopathy

J Gordon Millichap, Kristen Park, Tammy N. Tsuchida et al. · Neurology Genetics · 2016 · 242 citations · Full text

Medicine, Neurology, Pharmacology +14

Neonatal nonepileptic myoclonus is a prominent clinical feature of <i><scp>KCNQ</scp>2</i> gain‐of‐function variants R201C and R201H

Sarah B. Mulkey, Bruria Ben‐Zeev, Joost Nicolai et al. · Epilepsia · 2017 · 106 citations · Full text

Medicine, Genetics, Neurology +17

Infantile spasms and encephalopathy without preceding neonatal seizures caused by <i>KCNQ2</i> R198Q, a gain‐of‐function variant

J Gordon Millichap, Francesco Miceli, Michela De Maria et al. · Epilepsia · 2016 · 105 citations · Full text

Medicine, Molecular Genetics, Neurology +17

High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity

Carlos G. Vanoye, Reshma R. Desai, Zhigang Ji et al. · JCI Insight · 2022 · 65 citations · Full text

Medicine, Molecular Genetics, Pharmacology +17

KCNQ2-Related Disorders

Francesco Miceli, Maria Virginia Soldovieri, Nishtha Joshi et al. · Europe PMC (PubMed Central) · 2014 · 29 citations

Medicine, Neurology, Neuroscience +17