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Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.
Mulkey SB, Ben-Zeev B, Nicolai J, Carroll JL, Grønborg S, Jiang YH, Joshi N, Kelly M, Koolen DA, Mikati MA, Park K, Pearl PL, Scheffer IE, Spillmann RC, Taglialatela M, Vieker S, Weckhuysen S, Cooper EC, Cilio MR. Mulkey SB, et al. Among authors: joshi n. Epilepsia. 2017 Mar;58(3):436-445. doi: 10.1111/epi.13676. Epub 2017 Jan 31. Epilepsia. 2017. PMID: 28139826 Free PMC article.
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
Millichap JJ, Park KL, Tsuchida T, Ben-Zeev B, Carmant L, Flamini R, Joshi N, Levisohn PM, Marsh E, Nangia S, Narayanan V, Ortiz-Gonzalez XR, Patterson MC, Pearl PL, Porter B, Ramsey K, McGinnis EL, Taglialatela M, Tracy M, Tran B, Venkatesan C, Weckhuysen S, Cooper EC. Millichap JJ, et al. Among authors: joshi n. Neurol Genet. 2016 Aug 22;2(5):e96. doi: 10.1212/NXG.0000000000000096. eCollection 2016 Oct. Neurol Genet. 2016. PMID: 27602407 Free PMC article.
Early Endoscopic Outcomes After Risankizumab Are Associated With Fewer Hospitalizations and Surgeries in Crohn's Disease.
Feagan BG, Colombel JF, Panaccione R, Schreiber S, Ferrante M, Kamikozuru K, Ma C, Lee WJ, Griffith J, Joshi N, Kligys K, Kalabic J, Xuan S, Dubinsky M. Feagan BG, et al. Among authors: joshi n. Gastro Hep Adv. 2024 Sep 5;4(1):100544. doi: 10.1016/j.gastha.2024.08.022. eCollection 2025. Gastro Hep Adv. 2024. PMID: 39802486 Free PMC article.
1,656 results