KristenParkMD

PubMed

• De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
  Yuchen Xu, Rui Song, Riley E Perszyk, Wenjuan Chen, Sukhan Kim, Kristen L Park, James P Allen, Kelsey A Nocilla, Jing Zhang, Wenshu XiangWei, Anel Tankovic, Ellington ...> ;Cellular and Molecular Life Sciences. 2024 Mar 28
• TDP-43 impairs sleep inthrough-dependent metabolic disturbance.
  Perlegos, A., Durkin, J., Rodriguez, A., Shcherbakova, O., Luong, J., Bonini, N., Belfer, S., Park, K., Kayser, M.> ;Science Advances. 2024 Jan 12
• 1 citations
  Clinical and functional consequences of GRIA variants in patients with neurological diseases.
  Wenshu XiangWei, Riley E Perszyk, Nana Liu, Yuchen Xu, Subhrajit Bhattacharya, Gil H Shaulsky, Constance Smith-Hicks, Ali Fatemi, Andrew E Fry, Kate Chandler, Tao Wang...> ;Cellular and Molecular Life Sciences. 2023 Nov 3
• Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
  Franziska Langhammer, Reza Maroofian, Rueda Badar, Anne Gregor, Michelle Rochman, Jeffrey B Ratliff, Marije Koopmans, Theresia Herget, Maja Hempel, Fanny Kortüm, Delph...> ;Genetics in Medicine. 2023 Aug 1
• 4 citations
  Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature.
  James Taylor, Michael Spiller, Kara Ranguin, Antonio Vitobello, Christophe Philippe, Ange-Line Bruel, Gerarda Cappuccio, Nicola Brunetti-Pierri, Marjolaine Willems, Be...> ;American Journal of Medical Genetics. Part A. 2022 May 1
• 10 citations
  Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
  Dulcie Lai, Meethila Gade, Edward Yang, Hyun Yong Koh, Jinfeng Lu, Nicole M Walley, Anne F Buckley, Tristan T Sands, Cigdem I Akman, Mohamad A Mikati, Guy M McKhann, J...> ;Brain. 2022 Aug 27
• 8 citations
  Kinetically Stabilizing Mutations in Beta Tubulins Create Isotype-Specific Brain Malformations
  Kristen Park, Katelyn J. Hoff, Linnea Wethekam, Nicholas Stence, Margarita Saenz, Jeffrey K. Moore> ;Frontiers in Cell and Developmental Biology. 2021 Nov 18
• 20 citations
  Clinical and therapeutic significance of genetic variation in the GRIN gene family encoding NMDARs
  Tim A. Benke, Kristen Park, Ilona Krey, Chad R. Camp, Rui Song, Amy J. Ramsey, Stephen F. Traynelis, Johannes R. Lemke> ;Neuropharmacology. 2021 Nov 1
• 35 citations
  PEDIA: prioritization of exome data by image analysis
  Tzung-Chien Hsieh, Martin A. Mensah, Jean Tori Pantel, Dione Aguilar, Omri Bar, Allan Bayat, Luis Becerra-Solano, Heidi Beate Bentzen, Saskia Biskup, Oleg V. Borisov, ...> ;Genetics in Medicine. 2019 Jun 5
• 29 citations
  The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
  Ingo Helbig, Erin Rooney Riggs, Carrie Anne Barry, Karl Martin Klein, David A. Dyment, Courtney Thaxton, Bekim Sadikovic, Tristan T. Sands, Jacy L. Wagnon, Khalida Lia...> ;Human Mutation. 2018 Nov 1
• 7 citations
  Infantile Spasms and Injuries of Prematurity: Short-Term Treatment-Based Response and Long-Term Outcomes.
  Adam Wallace, Victoria Allen, Kristen Park, Kelly G. Knupp> ;Journal of Child Neurology. 2017 Jun 21
• Familial aggregation of focal seizure semiology in the Epilepsy Phenome/Genome Project.
  Tobochnik S, Fahlstrom R, Shain C, Winawer MR> ;Neurology. 2017 May 31
• 325 citations
  Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
  Markus Wolff, Katrine M Johannesen, Ulrike B. S. Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, A...> ;Brain. 2017 May 1
• 50 citations
  Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
  Nuria C. Bramswig, Hermann-Josef Lüdecke, Fadi F. Hamdan, Janine Altmüller, Filippo Beleggia, Nursel Elcioglu, Catharine Freyer, Erica H. Gerkes, Yasemin Kendir Demirk...> ;Human Genetics. 2017 Apr 9
• 56 citations
  Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H
  Sarah B. Mulkey, Bruria Ben-Zeev, Joost Nicolai, John L. Carroll, Sabine Grønborg, Yong-hui Jiang, Nishtha Joshi, Megan L. Kelly, David A. Koolen, Mohamad A. Mikati, K...> ;Epilepsia. 2017 Jan 31
• 149 citations
  Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.
  Andrew S. Allen, Susannah T. Bellows, Samuel F. Berkovic, Joshua Bridgers, Rosemary Burgess, Gianpiero L. Cavalleri, Seo-Kyung Chung, Patrick Cossette, Norman Delanty,...> ;The Lancet. Neurology. 2017 Feb 1
• 53 citations
  Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0...
  Silke Appenzeller, Rudi Balling, Nina Barišić, Stéphanie Baulac, Hande Caglayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Petia Dimova, Tania Djémié, Padhraig G...> ;American Journal of Human Genetics. 2017 Jan 5
• 118 citations
  KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
  , , , , , , , , , , , , , , , , , , , , , > ;Neurology. Genetics. 2016 Oct 1
• 11 citations
  Heart-specific Rpd3 downregulation enhances cardiac function and longevity
  Zachary A. Kopp, Jo Lin Hsieh, Andrew Li, William W. Wang, Dhelni T. Bhatt, Angela Lee, Sae Yeon Kim, David Fan, Veevek Shah, Emaad Siddiqui, Radhika Ragam, Kristen Pa...> ;Aging. 2015 Sep 21
• 50 citations
  Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy
  Epilepsy Phenome, Andrew S. Allen, Samuel F. Berkovic, Bradley P. Coe, Joseph Cook, Patrick Cossette, Norman Delanty, Dennis J. Dlugos, Evan E. Eichler, Michael P. Eps...> ;Annals of Neurology. 2015 Aug 1
• 1025 citations
  De novo mutations in epileptic encephalopathies
  Andrew S. Allen, Samuel F. Berkovic, Patrick Cossette, Norman Delanty, Dennis J. Dlugos, Evan E. Eichler, Michael P. Epstein, Tracy A. Glauser, David Goldstein, Yujun ...> ;Nature. 2013 Sep 12
• 66 citations
  Novel clinical manifestations in Pallister–Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases
  Alisha Wilkens, Hongbin Liu, Kristen Park, Lindsey Campbell, Marie Jackson, Anna Kostanecka, Mary Pipan, Kosuke Izumi, Phillip Pallister, Ian D. Krantz> ;American Journal of Medical Genetics. Part A. 2012 Dec 1
• 6 citations
  Pediatric epilepsy: Five new things.
  Kelly G. Knupp, Susan Koh, Kristen Park> ;Neurology. Clinical Practice. 2012 Mar 1
• 30 citations
  Frequency and Significance of Acute Postoperative Seizures Following Epilepsy Surgery in Children and Adolescents
  Kristen Park, Jeffrey Buchhalter, Robyn L. McClelland, Corey Raffel> ;Epilepsia. 2002 Aug 1
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Journal Articles

• The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the Divide Between Clinical Domain Knowledge and Formal Gene Curation Criteria  
  Ghayda Mirzaa, Kristen Park, Tristan T Sands, Erika Axeen, Tanya M Bardakjian, Annapurna Poduri, Katherine L Helbig, Heather C Mefford, Human Mutation
• Genetic effects on sleep/wake variation of seizures  
  Winawer, Melodie R.; Shih, Jerry; Beck, Erin S.; EPGP investigators; et. al, Epilepsia, 1/1/2016
• Quantitative assessment of corpus callosum morphology in periventricular nodular heterotopia  
  Pardoe, H., Mandelstam, S., Hiess, R., Kuzniecky, R., Jackson, G., Alzheimer's Disease Neuroimaging Inititiative, The EPGP Project Investigators, Epilepsy Research, 1/1/2015
• CNV analysis from exome data in 349 patients with epileptic encephalopathy  
  Mefford, Heather; EPGP and Epi4K investigators, Annals of Neurology, 1/1/2015
• Surpassing the Target: How a Recruitment Campaign Transformed the Participant Accrual Trajectory in the Epilepsy Phenome/Genome Project  
  McGovern, Kathleen; Karn, Catharine Freyer; Fox, Kristen; EPGP investigators, CTS - Clinical and Translational Science, 1/1/2015
• Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy  
  Fallil, Zianka; Pardoe, Heath; Bachman, Robert; EPGP Investigators, Epilepsy and Behavior, 1/1/2015
• Auras in generalized epilepsy  
  Dugan P, Carlson C, Bluvstein J, Chong DJ, Friedman D, Kirsch HE; EPGP Investigators, Neurology, 1/1/2014
• De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies  
  EuroEPINOMICS-RES Consortium; Epilepsy Phenome/Genome Project; Epi4K Consortium, Am J Hum Genet, 1/1/2014
• Evidence for a shared genetic susceptibility to migraine and epilepsy  
  Winawer MR, Connors R; EPGP Investigators, Epilepsia, 1/1/2013
• The Epilepsy Phenome/Genome Project (EPGP) informatics platform  
  Nesbitt G, McKenna K, Mays V, Carpenter A, Miller K, Williams M; EPGP Investigators, International Journal of Medical Informatics, 1/1/2013
• The Epilepsy Phenome/Genome Project  
  The EPGP Collaborative, Clinical Trials, 1/1/2013
• Polymicrogyria-associated epilepsy: a multicenter phenotypic study from the Epilepsy Phenome/Genome Project  
  Shain C, Ramgopal S, Fallil Z, Parulkar I, Alongi R, Knowlton R, Poduri A; EPGP Investigators, Epilepsia, 1/1/2013
• Lennox-Gastaut syndrome of unknown cause: phenotypic characteristics of patients in the Epilepsy Phenome/Genome Project  
  Widdess-Walsh P, Dlugos D, Fahlstrom R, Joshi S, Shellhaas R, Boro A, Sullivan J, Geller E; EPGP Investigators, Epilepsia, 1/1/2013
• Racial and ethnic differences in epilepsy classification among probands in the Epilepsy Phenome/Genome Project (EPGP)  
  Friedman D, Fahlstrom R; EPGP Investigators, Epilepsy Research, 1/1/2013
• Novel clinical manifestations in Pallister-Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases  
  Wilkens A, Liu H, Park K, Campbell LB, Jackson M, Kostanecka A, Pipan M, Izumi K, Pallister P, Krantz ID, American Journal of Medical Genetics, 1/1/2012
• Pediatric Epilepsy: Five new things  
  Kelly Knupp, Susan Koh, Kristen Park, Neurology: Clinical Practice, 1/1/2012
• Frequency and significance of acute postoperative seizures following epilepsy surgery in children and adolescents  
  Park K., Buchhalter, J., McClelland, R., Raffel, C, Epilepsia, 1/1/2002
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Books/Book Chapters

• The 5-Minute Pediatric Consult 
  Chapter: Seizures, Partial and Generalized 
  Park, KL; Knupp KG; Paolicchi, JEditors: 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.Wolters Kluwer Health - Lippincott Williams and Wilkins, Philadelphia, PAEdition 6th,2013
• Epilepsy and Intensive Care Monitoring: Principles and Practice 
  Chapter: Special Considerations in Pediatric Monitoring 
  Page 91.0 - 104.0Kristen L. Park, MD, Douglas R. Nordli, Jr., MDEditors: Bruce Fisch.Demos Medical Publishing2009
• Pediatric Epilepsy Case Studies: From Infancy and Childhood through Adolescence 
  Chapter: BMEI: Benign Myoclonic Epilepsy of Infancy 
  Page 99.0 - 104.0Kristen L Park, MD, Douglas R. Nordli , Jr., MDEditors: Kevin Chapman and Jong M. Rho.CRC Publishers2008

Abstracts/Posters

• Surgical outcome and prognostic factors in children with medically intractable epilepsy (MIE) caused by focal cortical dysplasia (FCD)
  Laoprasert P, White A, Knupp K, O’Neill B, Koh S, Park K, Chapman K, Shmueli D, and Handler M, American Academy of Neurology, San Diego, California, 1/1/2013
• Infantile spasms of unknown etiology: Phenotypic features of a large cohort
  Madou MR, Yuskaitis CJ, Howell KB, Poduri A, Scheffer I, Sherr E, EPGP Investigators and EPI4K Investigators, 66th American Epilepsy Society Annual Meeting, 1/1/2012
• Familial concordance of status epilepticus in the Epilepsy Phenome/Genome Project (EPGP)
  Weisenberg JL, Thio LL, Fahlstrom R, Rabinowitz D, Winawer M, The EPGP Investigators, 66th American Epilepsy Society Annual Meeting, 1/1/2012
• Clustering of Mutations in a North American Series Supports a Dominant-Negative Mechanism of KCNQ2 Encephalopathy
  E. Cooper, L. Carmant, R. Flamini, F. Kendall, P. Levisohn, J. Millichap, X. Ortiz-Gonzalez, K. Park, B. Porter, B. Tran, American Epilepsy Society, 1/1/2012
• Safety and Efficacy of High-Dose Diazepam for Treatment of Electrical Status Epilepticus During Slow Wave Sleep
  E. Gertsch, K. Chapman, P. Laoprasert, K. Park, K. Knupp, and S. Koh, American Epilepsy Society, 1/1/2012
• Auras in generalized epilepsy
  Dugan P, Devinsky O, Kuzniecky R, Fahlstrom R, The EPGP Investigators, 66th American Epilepsy Society Annual Meeting, 1/1/2012
• Outcome and complications in hemispherectomies in infants less than 1 year old
  Koh S, Zawadzki L, Laoprasert P, Knupp K, Park K, and Handler M, American Epilepsy Society, San Antonio, 1/1/2010
• Frequency and significance of acute postoperative seizures in children
  Park K, Child Neurology Society Annual Meeting, Victoria, BC, 1/1/2001
• Morbidity and Mortality for Hemispherectomy at CHCO
  Park K, 1/14/2014
• Novel Clinical Features of KCNQ2 Encephalopathy Associated With the Gain-of-Function Variant, R201C
  Sarah B. Mulkey, MD, PhD, Bruria Ben-Zeev, MD, Sarah Weckhuysen, MD, Kristen Park, MD, Nishtha Joshi, BS, MPH, Edward C. Cooper, MD, PhD, Maria Roberta Cilio, MD, PhD,..., American Epilepsy Society Annual Meeting, Philadelphia, PA, 1/3./2015
• Infantile Spasms and Injuries of Prematurity: Short-term treatment based response and long-term outcomes
  Adam Wallace, Victoria Allen, Kristen Park, Kelly Knupp, American Epilepsy Society: Annual Meeting, Philadelphia, PA, 1/4./2015
• KCNQ2-deficiency: Clinical spectrum of epilepsy, encephalopathy, and response to ezogabine
  Park, K; Millichap J; Cooper, EC on behalf of the RIKEE network, American Epilepsy Society, Seattle, WA, 1/5./2014
• An independent NP/PA practice model for improving new patient access within an academic pediatric neurology clinic
  Turner, S., Green, C., Park, K., Shea, S., Gyumushyan, Z, Child Neurology Society Annual Meeting, 1/31/2012
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Lectures

• Neurologic Sequelae of Pallister-Killian Syndrome 
  Philadelphia - 1/1/2006
• Febrile Seizures: A Refresher 
  Lutheran Exempla Medical Center, 2009; Littleton Adventist Hospital, 2009 - 1/2./2009
• Epilepsy Advocate Program 
  Children’s Hospital, Colorado - 1/23/2009
• The Genetics of Epilepsy: Unraveling the Mystery 
  1/1./2012
• Managing Students with Seizures 
  Children's Hospital Colorado, Mt. Snowmass - 1/22/2013
• Medical Marijuana: The Hash Realities 
  1/17/2014
• The Growing Realm of Medical Marijuana 
  1/29/2014
• Burning Questions in Epilepsy 
  Loveland, CO - 1/8./2014
• Epileptic Encephalopathies 
  Children’s Hospital Colorado - 1/15/2015
• Infantile Spasms - Where are we after 172 years 
  Children's Hospital Colorado - 1/8./2013
• Pediatric Neurologic Examination Practicum 
  Copper Mountain - 1/17/2009
• Neonatal Epileptic Encephalopathy: Bedside to Bench and Back 
  1/17/2014
• The Buzz on Medical Marijuana 
  Columbus, OH - 1/25/2014
• Annual Fundamentals Course: Side Effects of Epilepsy Therapy 
  Seattle, WA - 1/5./2014
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Other

• KCNQ2 Encephalopathy 
  Park K, Rare Disease Database, National Organization for Rare Disorders (NORD)
  http://rarediseases.org/rare-diseases/kcnq2-encephalopathy/
  1/1/2016
• Science Friday with Ira Flatow 
  Park K, Wang S, Colorado Public Radio Studio - Centennial
  http://www.sciencefriday.com/playlist/#play/program/1792
  1/3./2015
• Ask the Expert: CBD and Medical Marijuana 
  Park K, AES “Ask the Expert” Webinar
  https://www.aesnet.org/professional_education/ask-the-expert-webinar
  1/28/2015