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Pediatric epilepsy: Five new things.
Knupp K, Koh S, Park K. Knupp K, et al. Among authors: park k. Neurol Clin Pract. 2012 Mar;2(1):40-47. doi: 10.1212/CPJ.0b013e31824c6cbd. Neurol Clin Pract. 2012. PMID: 29443293 Free PMC article.
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
Bramswig NC, Lüdecke HJ, Hamdan FF, Altmüller J, Beleggia F, Elcioglu NH, Freyer C, Gerkes EH, Demirkol YK, Knupp KG, Kuechler A, Li Y, Lowenstein DH, Michaud JL, Park K, Stegmann APA, Veenstra-Knol HE, Wieland T, Wollnik B, Engels H, Strom TM, Kleefstra T, Wieczorek D. Bramswig NC, et al. Among authors: park k. Hum Genet. 2017 Jul;136(7):821-834. doi: 10.1007/s00439-017-1795-6. Epub 2017 Apr 9. Hum Genet. 2017. PMID: 28393272
The Fundamentals of Antiseizure Medications: A Through Z.
Welty TE, Conway JM, Bainbridge J, Park K, Vossler DG, Patel AA, Goldman A. Welty TE, et al. Among authors: park k. Epilepsy Curr. 2024 Oct 7:15357597241281838. doi: 10.1177/15357597241281838. Online ahead of print. Epilepsy Curr. 2024. PMID: 39539402 Free PMC article.
Mood and Anxiety Disorders and Suicidality in Patients With Newly Diagnosed Focal Epilepsy: An Analysis of a Complex Comorbidity.
Kanner AM, Saporta AS, Kim DH, Barry JJ, Altalib H, Omotola H, Jette N, O'Brien TJ, Nadkarni S, Winawer MR, Sperling M, French JA, Abou-Khalil B, Alldredge B, Bebin M, Cascino GD, Cole AJ, Cook MJ, Detyniecki K, Devinsky O, Dlugos D, Faught E, Ficker D, Fields M, Gidal B, Gelfand M, Glynn S, Halford JJ, Haut S, Hegde M, Holmes MG, Kalviainen R, Kang J, Klein P, Knowlton RC, Krishnamurthy K, Kuzniecky R, Kwan P, Lowenstein DH, Marcuse L, Meador KJ, Mintzer S, Pardoe HR, Park K, Penovich P, Singh RK, Somerville E, Szabo CA, Szaflarski JP, Lin Thio KL, Trinka E, Burneo JG; Human Epilepsy Project. Kanner AM, et al. Among authors: park k. Neurology. 2023 Mar 14;100(11):e1123-e1134. doi: 10.1212/WNL.0000000000201671. Epub 2022 Dec 20. Neurology. 2023. PMID: 36539302 Free PMC article.
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.
LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Allan TJ, Zalusky MP, Goffena J, Gibson SB, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel MN, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Gupta S, Jones EA, Weisz-Hubshman M, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT; Undiagnosed Diseases Network; Neale G, Carvill GL; University of Washington Center for Rare Disease Research; Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC. LaFlamme CW, et al. Nat Commun. 2024 Aug 6;15(1):6524. doi: 10.1038/s41467-024-50159-6. Nat Commun. 2024. PMID: 39107278 Free PMC article.
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
Xu Y, Song R, Perszyk RE, Chen W, Kim S, Park KL, Allen JP, Nocilla KA, Zhang J, XiangWei W, Tankovic A, McDaniels ED, Sheikh R, Mizu RK, Karamchandani MM, Hu C, Kusumoto H, Pecha J, Cappuccio G, Gaitanis J, Sullivan J, Shashi V, Petrovski S, Jauss RT, Lee HK, Bozarth X, Lynch DR, Helbig I, Pierson TM, Boerkoel CF, Myers SJ, Lemke JR, Benke TA, Yuan H, Traynelis SF. Xu Y, et al. Among authors: park kl. Cell Mol Life Sci. 2024 Mar 28;81(1):153. doi: 10.1007/s00018-023-05069-z. Cell Mol Life Sci. 2024. PMID: 38538865 Free PMC article.
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