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Page 1
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. Platzer K, et al. Among authors: patel ad. J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4. J Med Genet. 2017. PMID: 28377535 Free PMC article.
Neuroimaging of Early Life Epilepsy.
Coryell J, Gaillard WD, Shellhaas RA, Grinspan ZM, Wirrell EC, Knupp KG, Wusthoff CJ, Keator C, Sullivan JE, Loddenkemper T, Patel A, Chu CJ, Massey S, Novotny EJ Jr, Saneto RP, Berg AT. Coryell J, et al. Pediatrics. 2018 Sep;142(3):e20180672. doi: 10.1542/peds.2018-0672. Epub 2018 Aug 8. Pediatrics. 2018. PMID: 30089657 Free PMC article.
Immediate outcomes in early life epilepsy: A contemporary account.
Berg AT, Wusthoff C, Shellhaas RA, Loddenkemper T, Grinspan ZM, Saneto RP, Knupp KG, Patel A, Sullivan JE, Kossoff EH, Chu CJ, Massey S, Valencia I, Keator C, Wirrell EC, Coryell J, Millichap JJ, Gaillard WD. Berg AT, et al. Epilepsy Behav. 2019 Aug;97:44-50. doi: 10.1016/j.yebeh.2019.05.011. Epub 2019 Jun 7. Epilepsy Behav. 2019. PMID: 31181428 Free PMC article.
Quality improvement in neurology: Child neurology quality measure set: Executive summary.
Patel AD, Berg AT, Billinghurst L, Fain D, Fecske E, Feyma T, Grinspan Z, Houtrow A, Kothare S, Kumar G, Lee E, Monduy M, Morita D, Szperka CL, Victorio MC, Yeh A, Buchhalter JR. Patel AD, et al. Neurology. 2018 Jan 9;90(2):67-73. doi: 10.1212/WNL.0000000000004806. Epub 2017 Dec 15. Neurology. 2018. PMID: 29247076 No abstract available.
Design and implementation of electronic health record common data elements for pediatric epilepsy: Foundations for a learning health care system.
Grinspan ZM, Patel AD, Shellhaas RA, Berg AT, Axeen ET, Bolton J, Clarke DF, Coryell J, Gaillard WD, Goodkin HP, Koh S, Kukla A, Mbwana JS, Morgan LA, Singhal NS, Storey MM, Yozawitz EG, Abend NS, Fitzgerald MP, Fridinger SE, Helbig I, Massey SL, Prelack MS, Buchhalter J; Pediatric Epilepsy Learning Healthcare System. Grinspan ZM, et al. Among authors: patel ad. Epilepsia. 2021 Jan;62(1):198-216. doi: 10.1111/epi.16733. Epub 2020 Dec 24. Epilepsia. 2021. PMID: 33368200 Free PMC article.
Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study.
Perry MS, Scheffer IE, Sullivan J, Brunklaus A, Boronat S, Wheless JW, Laux L, Patel AD, Roberts CM, Dlugos D, Holder D, Knupp KG, Lallas M, Phillips S, Segal E, Smeyers P, Lal D, Wirrell E, Zuberi S, Brünger T, Wojnaroski M, Maru B, O'Donnell P, Morton M, James E, Vila MC, Huang N, Gofshteyn JS, Rico S. Perry MS, et al. Among authors: patel ad. Epilepsia. 2024 Feb;65(2):322-337. doi: 10.1111/epi.17850. Epub 2023 Dec 22. Epilepsia. 2024. PMID: 38049202 Free article.
Obtaining genetic testing in pediatric epilepsy.
Ream MA, Patel AD. Ream MA, et al. Among authors: patel ad. Epilepsia. 2015 Oct;56(10):1505-14. doi: 10.1111/epi.13122. Epub 2015 Sep 8. Epilepsia. 2015. PMID: 26345167 Free article. Review.
364 results