Kristen Park, MD

Professional Titles

• Director, Pediatric Epilepsy Fellowship

Research Interests

Publications

• Miller KR, Barnard S, Juarez-Colunga E, French JA, Pellinen J. Long-term seizure diary tracking habits in clinical studies: Evidence from the Human Epilepsy Project. Epilepsy Res. 2024 Jul;203:107379. PubMed PMID: 38754255
• Parekh P, Wheless H, Freglette C, French J, Morrison C, Pellinen J. Learning difficulties often not documented in newly diagnosed focal epilepsy. Epilepsy Behav. 2024 Jul;156:109837. PubMed PMID: 38759428
• Jandhyala N, Ferrer M, Pellinen J, Greenwood HT, Dlugos DJ, Park KL, Thio LL, French J. Unrecognized Focal Nonmotor Seizures in Adolescents Presenting to Emergency Departments. Neurology. 2024 May;102(10):e209389. PubMed PMID: 38691824
• The role of copy number variants in the genetic architecture of common familial epilepsies. Epilepsia. 2024 Mar;65(3):792-804. PubMed PMID: 38101940
• Abreo TJ, Thompson EC, Madabushi A, Soh H, Varghese N, Vanoye CG, Springer K, Park KL, Johnson J, Sims S, Ji Z, Chavez AG, Jankovic MJ, Habte B, Zuberi AR, Lutz C, Wang Z, Krishnan V, Dudler L, Einsele-Scholz S, Noebels JL, George AL Jr, Maheshwari A, Tzingounis AV, Cooper EC. Plural molecular and cellular mechanisms of pore domain KCNQ2 encephalopathy. bioRxiv. 2024 Jun 26. PubMed PMID: 38260608
• 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. De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. Cell Mol Life Sci. 2024 Mar 28;81(1):153. PubMed PMID: 38538865
• Symonds JD, Park KL, Mignot C, Macleod S, Armstrong M, Ashrafian H, Bernard G, Brown K, Brunklaus A, Callaghan M, Classen G, Cohen JS, Cutcutache I, de Sainte Agathe JM, Dyment D, Elliot KS, Isapof A, Joss S, Keren B, Marble M, McTague A, Osmond M, Page M, Planes M, Platzer K, Redon S, Reese J, Saenz M, Smith-Hicks C, Stobo D, Stockhaus C, Vuillaume ML, Wolf NI, Wakeling EL, Yoon G, Knight JC, Zuberi SM. POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia. Epilepsia. 2024 Nov;65(11):3303-3323. PubMed PMID: 39348199
• Camp CR, Vlachos A, Klöckner C, Krey I, Banke TG, Shariatzadeh N, Ruggiero SM, Galer P, Park KL, Caccavano A, Kimmel S, Yuan X, Yuan H, Helbig I, Benke TA, Lemke JR, Pelkey KA, McBain CJ, Traynelis SF. Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons. Commun Biol. 2023 Sep 19;6(1):952. PubMed PMID: 37723282
• Picketts D, Mirzaa G, Yan K, Relator R, Timpano S, Yalcin B, Collins S, Ziegler A, Pao E, Oyama N, Brischoux-Boucher E, Piard J, Monaghan K, Sacoto MG, Dobyns W, Park K, Fernández-Mayoralas D, Fernández-Jaén A, Jayakar P, Brusco A, Antona V, Giorgio E, Kvarnung M, Isidor B, Conrad S, Cogné B, Deb W, Stuurman KE, Sterbova K, Smal N, Weckhuysen S, Oegema R, Innes M, Latsko M, Ben-Omran T, Yeh R, Kruer M, Bakhtiari S, Papavasiliou A, Moutton S, Nambot S, Chanprasert S, Paolucci S, Miller K, Burton B, Kim K, O'Heir E, Bruwer Z, Donald K, Kleefstra T, Goldstein A, Angle B, Bontempo K, Miny P, Joset P, Demurger F, Hobson E, Pang L, Carpenter L, Li D, Bonneau D, Sadikovic B. Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition. Res Sq. 2023 Sep 29. PubMed PMID: 37841849
• XiangWei W, Perszyk RE, Liu N, Xu Y, Bhattacharya S, Shaulsky GH, Smith-Hicks C, Fatemi A, Fry AE, Chandler K, Wang T, Vogt J, Cohen JS, Paciorkowski AR, Poduri A, Zhang Y, Wang S, Wang Y, Zhai Q, Fang F, Leng J, Garber K, Myers SJ, Jauss RT, Park KL, Benke TA, Lemke JR, Yuan H, Jiang Y, Traynelis SF. Clinical and functional consequences of GRIA variants in patients with neurological diseases. Cell Mol Life Sci. 2023 Nov 3;80(11):345. PubMed PMID: 37921875
• Shelkowitz E, Stence NV, Neuberger I, Park KL, Saenz MS, Pao E, Oyama N, Friedman SD, Shaw DWW, Mirzaa GM. Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia. Pediatr Neurol. 2023 Oct;147:154-162. PubMed PMID: 37619436
• Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr EH, Gowda VK, Srinivasan VM, Bakhtiari S, Kruer MC, Salih MA, Kuechler A, Muller EA, Blocker K, Kuismin O, Park KL, Kochhar A, Brown K, Ramanathan S, Clark RD, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa GM, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra RA, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim AM, Abdulwahab F, Alkuraya FS, Khouj EM, Alvi JR, Sultan T, Hashemi N, Karimiani EG, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C. Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders. Genet Med. 2023 Aug;25(8):100885. PubMed PMID: 37165955
• 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. Mood and Anxiety Disorders and Suicidality in Patients With Newly Diagnosed Focal Epilepsy: An Analysis of a Complex Comorbidity. Neurology. 2023 Mar 14;100(11):e1123-e1134. PubMed PMID: 36539302
• Diverse genetic causes of polymicrogyria with epilepsy. Epilepsia. 2021 Apr;62(4):973-983. PubMed PMID: 33818783
• Pellinen J, Tafuro E, Yang A, Price D, Friedman D, Holmes M, Barnard S, Detyniecki K, Hegde M, Hixson J, Haut S, Kälviäinen R, French J. Focal nonmotor versus motor seizures: The impact on diagnostic delay in focal epilepsy. Epilepsia. 2020 Dec;61(12):2643-2652. PubMed PMID: 33078409
• Pellinen J, Tafuro E, Baehr A, Barnard S, Holmes M, French J. The Impact of Clinical Seizure Characteristics on Recognition and Treatment of New-onset Focal Epilepsy in Emergency Departments. Acad Emerg Med. 2020 Aug 18. [Epub ahead of print] PubMed PMID: 32810323
• Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Ðukic D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wisniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM. PEDIA: prioritization of exome data by image analysis. Genet Med. 2019 Jun 5. [Epub ahead of print] PubMed PMID: 31164752
• The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield. Epilepsia. 2019 May;60(5):797-806. PubMed PMID: 30951195
• Helbig I, Riggs ER, Barry CA, Klein KM, Dyment D, Thaxton C, Sadikovic B, Sands TT, Wagnon JL, Liaquat K, Cilio MR, Mirzaa G, Park K, Axeen E, Butler E, Bardakjian TM, Striano P, Poduri A, Siegert RK, Grant AR, Helbig KL, Mefford HC. The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria. Hum Mutat. 2018 Nov;39(11):1476-1484. PubMed PMID: 30311377
• Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain. 2017 May 1;140(5):1316-1336. PubMed PMID: 28379373
• 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. Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Hum Genet. 2017 Jul;136(7):821-834. PubMed PMID: 28393272
• Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data. Eur J Hum Genet. 2017 Jun;25(7):894-899. PubMed PMID: 28513609
• 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. Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. Epilepsia. 2017 Mar;58(3):436-445. PubMed PMID: 28139826
• De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy Epilepsy Genetics Initiative GENETICS in MEDICINE (2017) doi:10.1038/gim.2017.100 Published online 02 October 2017
• Winawer, Melodie R.; Shih, Jerry; Beck, Erin S.; EPGP investigators; et. al. Genetic effects on sleep/wake variation of seizures. Epilepsia. 2016; 57 (4) : 557-565.
• 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. Neurol Genet. 2016 Aug 22; 2(5)
• Park K. KCNQ2 Encephalopathy. In: Rare Disease Database. Copyright 2016, National Organization for Rare Disorders (NORD). Available at http://www.rarediseases.org
• Epilepsy Phenome Genome Project and the Epi4K Consortium. Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy. Annals of Neurology. Volume 78, Issue 2, pages 323–328, August 2015.
• Pardoe, H., Mandelstam, S., Hiess, R., Kuzniecky, R., Jackson, G., Alzheimer's Disease Neuroimaging Inititiative, The EPGP Project Investigators. Quantitative assessment of corpus callosum morphology in periventricular nodular heterotopia. Epilepsy Research. Vol 109; 40-47.
• Adam Wallace, Victoria Allen, Kristen Park, Kelly Knupp. Infantile Spasms and Injuries of Prematurity: Short-term treatment based response and long-term outcomes. American Epilepsy Society: Annual Meeting December 4-8, 2015 Philadelphia, PA.
• EuroEPINOMICS-RES Consortium; Epilepsy Phenome/Genome Project; Epi4K Consortium. De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies. Am J Hum Genet. 2014; S2 : 383-8.
• Park, K; Millichap J; Cooper, EC on behalf of the RIKEE network. KCNQ2-deficiency: Clinical spectrum of epilepsy, encephalopathy, and response to ezogabine. American Epilepsy Society; December 5-9, 2014; Seattle, WA.
• Shain, C; Ramgopal, S; Fallil, Z; Alongi, R; Knowlton, R; Poduri, A; and the EPGP Investigators. Polymicrogyria-associated epilepsy: A multicenter phenotypic study from the Epilepsy Phenome/Genome Project. Epilepsia. 2013; 54 (8) : 1368-1375
• Park, KL; Knupp KG; Paolicchi, J (6th Ed.). Seizures, Partial and Generalized. In: Drs. Michael D. Cabana, Paul Brakeman, Megan Curran, Linda A. Dimeglio, W. Christopher Golden, Robert Goldsby, Adam Hartman, Terry Kind, Jenifer L. Lightdale, Camille Sabella, and Ronn Tanel. The 5-Minute Pediatric Consult. Philadelphia, PA: Wolters Kluwer Health - Lippincott Williams & Wilkins; 2013
• Laoprasert, P; Koh, S; Knupp, KK; Park, KL. Surgical Outcome and Prognostic Factors in Children with Medically Intractable Epilepsy (MIE) Caused by Focal Cortical Dysplasia (FCD). American Academy of Neurology 65th Annual Meeting; 3/16/13 - 3/21/13; San Diego, CA.
• DOI citation available - http://dx.doi.org/10.1016/j.ijmedinf.2012.03.004
• C. Shain, S. Ramgopal, I. Parulkar, A. Poduri, and EPGP Investigators. Concordance of Epilepsy in Patients with Polymicrogyria Enrolled in the Epilepsy Phenome/Genome Project.
• J. Weisenberg, L. Thio, R. Fahlstrom, D. Rabinowitz, M. Winawer and EPGP Investigators. Familial Concordance of Status Epilepticus in the Epilepsy Phenome Genome Project
• M. Madou, C. Yuskaitis, K. Howell, A. Poduri, I. Scheffer, E. Sherr, EPGP Investigators and EPI4K Investigators. Infantile Spasms of Unknown Etiology: Phenotypic Features of a Large Cohort.
• P. Dugan, O. Devinsky, R Kuzniecky, R. Fahlstrom, and EPGP Investigators. Auras in Generalized Epilepsy.
• M. Winawer, R. Connors, and EPGP Investigators. Evidence for a Shared Genetic Susceptibility to Migraine and Epilepsy in the Epilepsy Phenome Genome Project.
• E. Gertsch, K. Chapman, P. Laoprasert, K. Park, K. Knupp, and S. Koh. Safety and Efficacy of High-Dose Diazepam for Treatment of Electrical Status Epilepticus During Slow Wave Sleep.
• J. Millichap, L. Carmant, R. Flamini, F. Kendall, P. Levisohn, X. Ortiz-Gonzalez, K. Park, B. Porter, B. Tran, T. Tsuchida, E. Cooper. Clustering of Mutations in a North American Series Supports a Dominant-Negative Mechanism of KCNQ2 Encephalopathy.
• Mefford, Heather; EPGP and Epi4K investigators. CNV analysis from exome data in 349 patients with epileptic encephalopathy. Annals of Neurology.
• Genotype-Phenotype Correlation in KCNQ2 Encephalopathy: Neonatal Non-Epileptic Myoclonus is a Prominent Clinical Feature of Gain-of-Function Variants R201C and R201H
• Manuscript title: Kinetically stabilizing mutations in beta tubulins create isotype-specific brain malformations Journal: Frontiers in Cell and Developmental Biology, section Membrane Traffic Article type: Original Research Authors: Kristen Park, Katelyn Hoff, Linnea Wethekam, Nicholas Stence, Margarita Saenz, Jeffrey Moore Manuscript ID: 765992
• Joseph Symonds, Katherine Elliott, Stewart MacLeod, Cyril Mignot, Arnaud Isapof, Boris Keren, Yuri Zarate, Kristen Park, Margarita Saenz, Kathleen Brown, Shelagh Joss, Mary Callaghan, Julian Knight, Sameer Zuberi. Ribosomal polymerase disorders: an important cause of developmental and epileptic encephalopathy with myoclonic seizures. 14th European Paediatric Neurology Society Congress Abstract no: EPNS21-419
• American Journal of Medical Genetics: Part A. Taylor, James, Spiller, Michael, Ranguin, Kara, Vitobello, Antonio, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Willems, Marjolaine, Isidor, Bertrand, Park, Kristen, Balasubramanian, M. Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature. American Journal of Medical Genetics: Part A. Manuscript ID: 21-0983

Professional Memberships

• Epilepsy Foundation of Colorado, Member, Board of Directors
• American Epilepsy Society, Member

Practice Locations

• Children's Hospital Colorado

Specialty Information

• Child Neurology, Board Certification (2008)
• Clinical Neurophysiology, Board Certification (2011)
• Epilepsy, Board Certification (2013)

• Brain and Nervous System - Epilepsy
• Brain and Nervous System