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Page 1
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: pearl pl. Epilepsia. 2017 Mar;58(3):436-445. doi: 10.1111/epi.13676. Epub 2017 Jan 31. Epilepsia. 2017. PMID: 28139826 Free PMC article.
Cerebral MRI abnormalities associated with vigabatrin therapy.
Pearl PL, Vezina LG, Saneto RP, McCarter R, Molloy-Wells E, Heffron A, Trzcinski S, McClintock WM, Conry JA, Elling NJ, Goodkin HP, de Menezes MS, Ferri R, Gilles E, Kadom N, Gaillard WD. Pearl PL, et al. Epilepsia. 2009 Feb;50(2):184-94. doi: 10.1111/j.1528-1167.2008.01728.x. Epub 2008 Sep 8. Epilepsia. 2009. PMID: 18783433 Free article.
Gene sleuthing in pyridoxine-dependent epilepsy.
Weckhuysen S, Pearl PL. Weckhuysen S, et al. Among authors: pearl pl. Neurology. 2015 Sep 1;85(9):748-9. doi: 10.1212/WNL.0000000000001901. Epub 2015 Jul 29. Neurology. 2015. PMID: 26224728 No abstract available.
SCN8A encephalopathy: Research progress and prospects.
Meisler MH, Helman G, Hammer MF, Fureman BE, Gaillard WD, Goldin AL, Hirose S, Ishii A, Kroner BL, Lossin C, Mefford HC, Parent JM, Patel M, Schreiber J, Stewart R, Whittemore V, Wilcox K, Wagnon JL, Pearl PL, Vanderver A, Scheffer IE. Meisler MH, et al. Among authors: pearl pl. Epilepsia. 2016 Jul;57(7):1027-35. doi: 10.1111/epi.13422. Epub 2016 Jun 8. Epilepsia. 2016. PMID: 27270488 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: pearl pl. Neurol Genet. 2016 Aug 22;2(5):e96. doi: 10.1212/NXG.0000000000000096. eCollection 2016 Oct. Neurol Genet. 2016. PMID: 27602407 Free PMC article.
Mortality in infantile spasms: A hospital-based study.
Harini C, Nagarajan E, Bergin AM, Pearl P, Loddenkemper T, Takeoka M, Morrison PF, Coulter D, Harappanahally G, Marti C, Singh K, Yuskaitis C, Poduri A, Libenson MH. Harini C, et al. Epilepsia. 2020 Apr;61(4):702-713. doi: 10.1111/epi.16468. Epub 2020 Mar 5. Epilepsia. 2020. PMID: 32133641
Hemispherectomy Outcome Prediction Scale: Development and validation of a seizure freedom prediction tool.
Weil AG, Lewis EC, Ibrahim GM, Kola O, Tseng CH, Zhou X, Lin KM, Cai LX, Liu QZ, Lin JL, Zhou WJ, Mathern GW, Smyth MD, O'Neill BR, Dudley R, Ragheb J, Bhatia S, Delev D, Ramantani G, Zentner J, Ojemann J, Wang AC, Dorfer C, Feucht M, Czech T, Bollo RJ, Issabekov G, Zhu H, Connelly M, Steinbok P, Zhang JG, Zhang K, Hidalgo ET, Weiner HL, Wong-Kisiel L, Lapalme-Remis S, Tripathi M, Sarat Chandra P, Hader W, Wang FP, Yao Y, Olivier Champagne P, Guo Q, Li SC, Budke M, Pérez-Jiménez MA, Raftapoulos C, Finet P, Michel P, Schaller K, Stienen MN, Baro V, Cantillano Malone C, Pociecha J, Chamorro N, Muro VL, von Lehe M, Vieker S, Oluigbo C, Gaillard WD, Al Khateeb M, Al Otaibi F, Krayenbühl N, Bolton J, Pearl PL, Fallah A. Weil AG, et al. Among authors: pearl pl. Epilepsia. 2021 May;62(5):1064-1073. doi: 10.1111/epi.16861. Epub 2021 Mar 13. Epilepsia. 2021. PMID: 33713438
Comparison of the real-world effectiveness of vertical versus lateral functional hemispherotomy techniques for pediatric drug-resistant epilepsy: A post hoc analysis of the HOPS study.
Fallah A, Lewis E, Ibrahim GM, Kola O, Tseng CH, Harris WB, Chen JS, Lin KM, Cai LX, Liu QZ, Lin JL, Zhou WJ, Mathern GW, Smyth MD, O'Neill BR, Dudley RWR, Ragheb J, Bhatia S, Delev D, Ramantani G, Zentner J, Wang AC, Dorfer C, Feucht M, Czech T, Bollo RJ, Issabekov G, Zhu H, Connolly M, Steinbok P, Zhang JG, Zhang K, Hidalgo ET, Weiner HL, Wong-Kisiel L, Lapalme-Remis S, Tripathi M, Sarat Chandra P, Hader W, Wang FP, Yao Y, Champagne PO, Brunette-Clément T, Guo Q, Li SC, Budke M, Pérez-Jiménez MA, Raftopoulos C, Finet P, Michel P, Schaller K, Stienen MN, Baro V, Cantillano Malone C, Pociecha J, Chamorro N, Muro VL, von Lehe M, Vieker S, Oluigbo C, Gaillard WD, Al-Khateeb M, Al Otaibi F, Krayenbühl N, Bolton J, Pearl PL, Weil AG. Fallah A, et al. Among authors: pearl pl. Epilepsia. 2021 Nov;62(11):2707-2718. doi: 10.1111/epi.17021. Epub 2021 Sep 12. Epilepsia. 2021. PMID: 34510448 Free PMC article. Clinical Trial.
256 results