Eric Marsh, MD, PhD
Areas of expertise: Developmental Epilepsies, Epilepsy, Infantile spasms, Malformations of Cortical Development, Rett syndrome, West syndrome
Locations: Buerger Center for Advanced Pediatric Care
About Eric Marsh, MD, PhD
Eric Marsh, MD, PhD, is an attending pediatric neurologist in the Division of Neurology at Children’s Hospital of Philadelphia (CHOP). He specializes in diagnosing and treating children with neurodevelopmental disorders (including Rett Syndrome), developmental epilepsies, epilepsy, infantile spasms syndrome and malformations of cortical development.
Dr. Marsh’s philosophy of care centers around helping families feel heard and informed.
“It’s important that families are listened to, their concerns are taken seriously and the issues and conditions they face are explained to them to the best of our abilities,” he says.
In addition to his role at CHOP, Dr. Marsh is an Associate Professor of Neurology at the Perelman School of Medicine at the University of Pennsylvania and Clinical Director of the Penn Orphan Disease Center
Dr. Marsh has long been fascinated by the workings of the brain and how its billions of neurons can lead to neurological diseases when not functioning properly. This interest has driven his research into genetic epilepsies and genetic neurodevelopmental disorders.
“Understanding these disorders can lead to a better grasp of how the brain works and can lead to novel treatments and cures for these conditions,” he says.
Much of Dr. Marsh’s research focuses on mutations in the ARX gene, which cause epilepsy and other diseases. He is also studying the clinical presentations of Rett syndrome, Dravet syndrome and Lennox-Gastaut syndrome, CDKL5 syndrome and related disorders, and is involved in a number of clinical trials for novel therapeutics.
“There is an emergence of cell-, RNA- and DNA-based therapies as well as pathway-directed pharmaceutical approaches to treating these difficult to treat conditions,” he says. “I feel that a better clinical understanding of these conditions using new technologies to track and monitor neurological function will allow for novel therapies to improve patients’ lives.”
Titles
Attending Physician
Clinical Director, Penn Orphan Disease Center
Associate Professor of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania
Certifications
Child Neurology – American Board of Psychiatry and Neurology
Clinical Neurophysiology – American Board of Psychiatry and Neurology
Pediatrics – American Board of Pediatrics
Awards and Honors
2022, Philadelphia Magazine's Top Doctors in Child Neurology
2014, Leonard Berwick Teaching Award/Perelman School of Medicine
2007, Young Investigator Award of the MRDDC center at the Children's Hospital of Philadelphia
2005, American Epilepsy Society/Milken Family Foundation- Early Career Investigator Award
2004, Merritt Putnam Award of the Epilepsy Foundation Research and Clinical Training Grant
2004, Abass-Alavi Postdoctoral Fellow Award in Mental Retardation and Developmental Disabilities
2002, Child Neurology Society- TOPs Scholar
2000, Resident of year award, NYU Department of Pediatrics
1996, Graduate student award, Annual Neural Control of Movement Meeting
Leadership and Memberships
Memberships in Professional Organizations
- 2021-present, American Epilepsy Society (Co-Chair Epilepsy Benchmarks Committee)
- 2020-present, International Rett syndrome Foundation (RettSyndrome.org) (Member Medical Advisory Board)
- 2019-present, Citizen's United for Research in Epilepsy (Advisory Board Member)
- 2016-present, Jefferson Medical College Center for Medicinal Cannabis Education and Research
- 2016-present, Advisory Board Member
- 2015-present, National Institutes of Neurological Disease and Stroke
- 2015-present, Lennox Gastaut Syndrome Foundation
- 2015-present, Member scientific advisory board
- 2015-present, Citizens United for Research in Epilepsy (C.U.R.E)
- 2007-present, Society for Neuroscience
- 2003-present, American Epilepsy Society
- 2000-present, Child Neurology Society
- 2000-present, American Academy of Neurology
Editorial and Academic Positions
Editorial Positions
2017-present, Ad hoc Reviewer, Annals of Neurology
2017-present, Ad Hoc Reviewer, Neurology
2016-present, Ad Hoc Reviewer, Science Translational Medicine
2016-present, Ad Hoc Reviewer, Human Molecular Genetics
2015-present, Ad hoc Reviewer, Neurobiology of Stress
2014-present, Ad hoc reviewer, American Journal of Human Genetics
2013-present, Ad Hoc Reviewer; Epilepsy Research
2013-present, Ad Hoc Reviewer, Journal of Neuroscience
2011-present, Ad hoc reviewer, Neurochemistry International
2008-present, AdHoc Reviewer/Epilepsy and Behavior
2008-present, AdHoc Reviewer; Journal of Neuroscience Research
2007-present, AdHoc Reviewer/European Journal of Neuroscience
2007-present, AdHoc Reviewer/Pediatric Emergency Care
2007-present, AdHoc Reviewer/Epilepsia
2006-present, AdHoc Reviewer/Clinical Neurophysiology
Research Interests
My research interests spans both basic, translational, and clinical research. My basic research focuses on understanding the relationship between interneuronal development and altered excitability that leads to epilepsy. We are studying how loss of a gene important for interneuronal development, the gene ARX, can lead to changes in excitability and development of epilepsy. Translationally, my lab studies intracranial EEG recordings to learn how to better localized the epileptic zone and network and uses EEG and evoked potentials to develop clinical biomarkers. Finally, we are involved in a number of clinical trials for epilepsy and neurodevelopmental disorders. All of this work will improve how patients are cared for and improve the understanding of how abnormal brain development leads to epilepsy and neurodevelopmental disorders.
Education & training
Graduate Degree
MS in Physiology and Neuroscience - New York University- Sackler School of Biomedical Sciences, New York, NY
PhD in Physiology and Neuroscience - New York University- Sackler School of Biomedical Sciences, New York, NY
Medical Degree
MD - New York University, New York, NY
Internship
Pediatrics - Bellevue Hospital/NYU Medical Center, New York, NY
Residency
Pediatrics - Bellevue Hospital/NYU Medical Center, New York, NY
Child Neurology - Children's Hospital of Philadelphia/Hospital of the University of Pennsylvania, Philadelphia, PA
Fellowship
Clinical Neurophysiology - Children's Hospital of Philadelphia, Philadelphia, PA
Post Doctoral Fellow - Children's Hospital of Philadelphia, Philadelphia, PA
Publications
Publications
2021
Saby JN, Benke TA, Peters SU, Standridge SM, Matsuzaki J, Cutri-French C, Swanson LC, Lieberman DN, Key AP, Percy AK, Neul JL, Nelson CA, Roberts TPL, Marsh ED.: Multisite Study of Evoked Potentials in Rett Syndrome. Ann Neurol nn Neurol, Jan 2021.
Yardeni T, Cristancho AG, McCoy AJ, Schaefer PM, McManus MJ, Marsh ED, Wallace DC.: An mtDNA mutant mouse demonstrates that mitochondrial deficiency can result in autism endophenotypes. Proc Natl Acad Sci U S A 118: e2021429118, Feb 2021.
Denton N, Molloy M, Charleston S, Lipset C, Hirsch J, Mulberg AE, Howard P, Marsh ED.: Data silos are undermining drug development and failing rare disease patients. Orphanet J Rare Dis 16: 161, Apr 2021.
Privitera M, Bhathal H, Wong M, Cross JH, Wirrell E, Marsh ED, Mazurkiewicz-Beldzinska M, Villanueva V, Checketts D, Knappertz V, VanLandingham K.: Time to onset of cannabidiol (CBD) treatment effect in Lennox-Gastaut syndrome: Analysis from two randomized controlled trials. Epilepsia 62: 1130-1140, May 2021.
Cuddapah VA, Dubbs HA, Adang L, Kugler SL, McCormick EM, Zolkipli-Cunningham Z, Ortiz-González XR, McCormack S, Zackai E, Licht DJ, Falk MJ, Marsh ED.: Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature. Am J Med Genet A 2021.
2020
Gourmaud S, Shou H, Irwin DJ, Sansalone K, Jacobs LM, Lucas TH, Marsh ED, Davis KA, Jensen FE, Talos DM.: Alzheimer-like amyloid and tau alterations associated with cognitive deficit in temporal lobe epilepsy. Brain 143(1): 191-209, Jan 2020.
Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, OteroMG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, Rohena L,Vernon H, Gripp KW, Vergano SA, Mahida S, Naidu S, Sousa AB, Wain KE, ChallmanTD, Beek G, Basel D, Ranells J, Smith R, Yusupov R, Freckmann ML, Ohden L,Davis-Keppen L, Chitayat D, Dowling JJ, Finkel R, Dauber A, Spillmann R, PenaLDM, Metcalfe K, Splitt M, Lachlan K, McKee SA, Hurst J, Fitzpatrick DR, MortonJEV, Cox H, Venkateswaran S, Young JI, Marsh ED, Nelson SF, Martinez JA, GrahamJM Jr, Kini U, Mackay JP, Pierson TM.: GATAD2B-associated neurodevelopmentaldisorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet Med. Epub ahead of print, Jan 2020
Cutri-French C, Armstrong D , Saby J, Gorman C, Lane J, Fu C ,Peters SU, Percy A, Neul JL , Marsh ED : Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study Annals of Neurology May 2020.
Berecki G, Helbig KL, Ware TL, Grinton B, Skraban CM, Marsh ED, Berkovic SF, Petrou S.: Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy. Int J Mol Sci. Aug 2020
Fu C, Armstrong D, Marsh E, Lieberman D, Motil K, Witt R, Standridge S, Nues P, Lane J, Dinkel T, Coenraads M, von Hehn J, Jones M, Hale K, Suter B, Glaze D, Neul J, Percy A, Benke T.: Consensus guidelines on managing Rett syndrome across the lifespan. BMJ Paediatr Open. Sept 2020.
Mulcahey PJ, Tang S, Takano H, White A ,Portillo DD , Kane OM ,Marsh ED , Zhou J ,Coulter DA : Aged heterozygous Cdkl5 mutant mice exhibit spontaneous epileptic spasms. Experimental Neurology 332(11338), Oct 2020.
Peters SU, Fu C, Marsh ED, Benke TA, Suter B, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Glaze DG, Percy AK, Neul JL.: Phenotypic features in MECP2 duplication syndrome: Effects of age. Am J Med Genet A. Nov 2020.
Raspa M, Bann CM, Gwaltney A, Benke TA, Fu C, Glaze DG, Haas R, Heydemann P, Jones M, Kaufmann WE, Lieberman D, Marsh E, Peters S, Ryther R, Standridge S, Skinner SA, Percy AK, Neul JL.: A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials. Am J Intellect Dev Disabil. 125(6): 493-509, November 2020.
Terzic B, Cui Y, Edmondson AC, Tang S, Sarmiento N, Zaitseva D, Marsh ED, Coulter DA, Zhou Z.: X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder. Neurobiol Disease Nov 2020 Notes: On line- ahead of print.
Joseph DJ, Von Deimling M, Hasegawa Y, Cristancho AG, Ahrens-Nicklas RC, Rogers SL, Risbud R, McCoy AJ, Marsh ED.: Postnatal Arx transcriptional activity regulates functional properties of PV interneurons. iScience 24: 101999, Dec 2020.
Shi X, Lim Y, Myers AK, Stallings BL, Mccoy A, Zeiger J, Scheck J, Cho G, Marsh ED, Mirzaa GM, Tao T, Golden JA.: PIK3R2/Pik3r2 Activating Mutations Result in Brain Overgrowth and EEG Changes. Ann Neurol 88(6): 1077-1094, Dec 2020.
2019
Neul Jeffrey L, Benke Timothy A, Marsh Eric D, Skinner Steven A, Merritt Jonathan, Lieberman David N, Standridge Shannon, Feyma Timothy, Heydemann Peter, Peters Sarika, Ryther Robin, Jones Mary, Suter Bernhard, Kaufmann Walter E, Glaze Daniel G, Percy Alan K: The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 180(1): 55-67, Jan 2019.
Demarest Scott, Pestana-Knight Elia M, Olson Heather E, Downs Jenny, Marsh Eric D, Kaufmann Walter E, Partridge Carol-Anne, Leonard Helen, Gwadry-Sridhar Femida, Frame Katheryn Elibri, Cross J Helen, Chin Richard F M, Parikh Sumit, Panzer Axel, Weisenberg Judith, Utley Karen, Jaksha Amanda, Amin Sam, Khwaja Omar, Devinsky Orrin, Neul Jeffery L, Percy Alan K, Benke Tim A: Severity Assessment in CDKL5 Deficiency Disorder. Pediatric neurology Mar 2019.
Thiele Elizabeth, Marsh Eric, Mazurkiewicz-Beldzinska Maria, Halford Jonathan J, Gunning Boudewijn, Devinsky Orrin, Checketts Daniel, Roberts Claire: Cannabidiol in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study. Epilepsia 60(3): 419-428, Mar 2019.
Balciuniene Jorune, DeChene Elizabeth T, Akgumus Gozde, Romasko Edward J, Cao Kajia, Dubbs Holly A, Mulchandani Surabhi, Spinner Nancy B, Conlin Laura K, Marsh Eric D, Goldberg Ethan, Helbig Ingo, Sarmady Mahdi, Abou Tayoun Ahmad: Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy. JAMA network open 2(4): e192129, Apr 2019.
Billakota Santoshi, Devinsky Orrin, Marsh Eric: Cannabinoid therapy in epilepsy. Current opinion in neurology 32(2): 220-226, Apr 2019.
EGI consortium on behalf of all the authors: The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield. Epilepsia 60(5): 797-806, May 2019.
Peters Sarika U, Fu Cary, Suter Bernhard, Marsh Eric, Benke Timothy A, Skinner Steve A, Lieberman David N, Standridge Shannon, Jones Mary, Beisang Arthur, Feyma Timothy, Heydeman Peter, Ryther Robin, Kaufmann Walter E, Glaze Daniel G, Neul Jeffrey L, Percy Alan K: Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome. Clinical genetics 95(5): 575-581, May 2019.
Tomlinson Samuel B, Wong Jeremy N, Conrad Erin C, Kennedy Benjamin C, Marsh Eric D: Reproducibility of interictal spike propagation in children with refractory epilepsy. Epilepsia 60(5): 898-910, May 2019.
Gofshteyn J S, Le T, Kessler S, Kamens R, Carr C, Gaetz W, Bloy L, Roberts T P L, Schwartz E S, Marsh E D: Synthetic aperture magnetometry and excess kurtosis mapping of Magnetoencephalography (MEG) is predictive of epilepsy surgical outcome in a large pediatric cohort. Epilepsy research 155: 106151, Jun 2019.
Helbig Ingo, Lopez-Hernandez Tania, Shor Oded, Galer Peter, Ganesan Shiva, Pendziwiat Manuela, Rademacher Annika, Ellis Colin A, Hümpfer Nadja, Schwarz Niklas, Seiffert Simone, Peeden Joseph, Shen Joseph, ŠtÄ›rbová Katalin, Hammer Trine Bjørg, Møller Rikke S, Shinde Deepali N, Tang Sha, Smith Lacey, Poduri Annapurna, Krause Roland, Benninger Felix, Helbig Katherine L, Haucke Volker, Weber Yvonne G: A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. American journal of human genetics 104(6): 1060-1072, Jun 2019.
Laux Linda C, Bebin E Martina, Checketts Daniel, Chez Michael, Flamini Robert, Marsh Eric D, Miller Ian, Nichol Kathryn, Park Yong, Segal Eric, Seltzer Laurie, Szaflarski Jerzy P, Thiele Elizabeth A, Weinstock Arie: Long-term safety and efficacy of cannabidiol in children and adults with treatment resistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program results. Epilepsy research 154: 13-20, Aug 2019.
Ahrens-Nicklas Rebecca C, Tecedor Luis, Hall Arron, Lysenko Elena, Cohen Akiva S, Davidson Beverly L, Marsh Eric D: Neuronal network dysfunction precedes storage and neurodegeneration in a lysosomal storage disorder. JCI insight Oct 2019.
Kang Seok Kyu, Vanoye Carlos G, Misra Sunita N, Echevarria Dennis M, Calhoun Jeffrey D, O'Connor John B, Fabre Katarina L, McKnight Dianalee, Demmer Laurie, Goldenberg Paula, Grote Lauren E, Thiffault Isabelle, Saunders Carol, Strauss Kevin A, Torkamani Ali, van der Smagt Jasper, van Gassen Koen, Carson Robert P, Diaz Jullianne, Leon Eyby, Jacher Joseph E, Hannibal Mark C, Litwin Jessica, Friedman Neil R, Schreiber Allison, Lynch Bryan, Poduri Annapurna, Marsh Eric D, Goldberg Ethan M, Millichap John J, George Alfred L, Kearney Jennifer A: Spectrum of K 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders. Annals of neurology Oct 2019.
Conrad EC, Tomlinson SB, Wong JN, Oechsel KF, Shinohara RT, Litt B, Davis KA,Marsh ED: Spatial distribution of interictal spikes fluctuates over time andlocalizes seizure onset. Brain epub ahead of print, Dec 2019.
Tang Sheng, Terzic Barbara, Wang I-Ting Judy, Sarmiento Nicolas, Sizov Katherine, Cui Yue, Takano Hajime, Marsh Eric D, Zhou Zhaolan, Coulter Douglas A: Altered NMDAR signaling underlies autistic-like features in mouse models of CDKL5 deficiency disorder. Nature communications 10(1): 2655, 06 2019.
2018
Szaflarski Jerzy P, Bebin Elizabeth Martina, Comi Anne M, Patel Anup D, Joshi Charuta, Checketts Daniel, Beal Jules C, Laux Linda C, De Boer Lisa M, Wong Matthew H, Lopez Merrick, Devinsky Orrin, Lyons Paul D, Zentil Pilar Pichon, Wechsler Robert: Long-term safety and treatment effects of cannabidiol in children and adults with treatment-resistant epilepsies: Expanded access program results. Epilepsia 59(8): 1540-1548, August 2018.
Rogers SL, Rankin-Gee E, Risbud RM, Porter BE, Marsh ED. Normal Development of the Perineuronal Net in Humans; In Patients with and without Epilepsy. Neuroscience. 2018 Aug 1;384:350-360. doi: 10.1016/j.neuroscience.2018.05.039. Epub 2018 Jun 7.
Tomlinson SB, Khambhati AN, Bermudez C, Kamens RM, Heuer GG, Porter BE, Marsh ED. Alterations of network synchrony after epileptic seizures: An analysis of post-ictal intracranial recordings in pediatric epilepsy patients. Epilepsy Res. 2018 Jul;143:41-49. doi: 10.1016/j.eplepsyres.2018.04.003. Epub 2018 Apr 5.
Thiele EA, Marsh ED, French JA, Mazurkiewicz-Beldzinska M, Benbadis SR, Joshi C, Lyons PD, Taylor A, Roberts C, Sommerville K; GWPCARE4 Study Group. Cannabidiol in patients with seizures associated with Lennox-Gastaut syndrome (GWPCARE4): a randomised, double-blind, placebo-controlled phase 3 trial. Lancet. 2018 Mar 17;391(10125):1085-1096. doi: 10.1016/S0140-6736(18)30136-3. Epub 2018 Jan 26.
Lee BH, Reijnders MRF, Abubakare O, Tuttle E, Lape B, Minks KQ, Stodgell C, Bennetto L, Kwon J, Fong CT, Gripp KW, Marsh ED, Smith WE, Huq AM, Coury SA, Tan WH, Solis O, Mehta RI, Leventer RJ, Baralle D, Hunt D, Paciorkowski AR. Expanding the neurodevelopmental phenotype of PURA syndrome. Am J Med Genet A. 2018 Jan;176(1):56-67. doi: 10.1002/ajmg.a.38521. Epub 2017 Nov 17.
2017
Helbig I, von Deimling M, Marsh ED. Epileptic Encephalopathies as Neurodegenerative Disorders. Adv Neurobiol. 2017;15:295-315. doi: 10.1007/978-3-319-57193-5_11.
von Deimling M, Helbig I, Marsh ED. Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts. Curr Neurol Neurosci Rep. 2017 Feb;17(2):10. doi: 10.1007/s11910-017-0720-7. Review.
Ahrens-Nicklas RC, Umanah GK, Sondheimer N, Deardorff MA, Wilkens AB, Conlin LK, Santani AB, Nesbitt A, Juulsola J, Ma E, Dawson TM, Dawson VL, Marsh ED. Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1. Neurol Genet. 2017 Feb 1;3(1):e130. doi: 10.1212/NXG.0000000000000130. eCollection 2017 Feb.
Tomlinson SB, Porter BE, Marsh ED. Interictal network synchrony and local heterogeneity predict epilepsy surgery outcome among pediatric patients. Epilepsia. 2017 Mar;58(3):402-411. doi: 10.1111/epi.13657. Epub 2017 Feb 6.
Olson HE, Kelly M, LaCoursiere CM, Pinsky R, Tambunan D, Shain C, Ramgopal S, Takeoka M, Libenson MH, Julich K, Loddenkemper T, Marsh ED, Segal D, Koh S, Salman MS, Paciorkowski AR, Yang E, Bergin AM, Sheidley BR, Poduri A. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol. 2017 Mar;81(3):419-429. doi: 10.1002/ana.24883. Epub 2017 Feb 14.
Shen D, Hernandez CC, Shen W, Hu N, Poduri A, Shiedley B, Rotenberg A, Datta AN, Leiz S, Patzer S, Boor R, Ramsey K, Goldberg E, Helbig I, Ortiz-Gonzalez XR, Lemke JR, Marsh ED, Macdonald RL. De novo GABRG2 mutations associated with epileptic encephalopathies. Brain. 2017 Jan;140(1):49-67. doi: 10.1093/brain/aww272. Epub 2016 Nov 17.
Gofshteyn JS, Wilfong A, Devinsky O, Bluvstein J, Charuta J, Ciliberto MA, Laux L, Marsh ED. Cannabidiol as a Potential Treatment for Febrile Infection-Related Epilepsy Syndrome (FIRES) in the Acute and Chronic Phases. J Child Neurol. 2017 Jan;32(1):35-40. doi: 10.1177/0883073816669450. Epub 2016 Sep 29.
2016
Tomlinson SB, Bermudez C, Conley C, Brown MW, Porter BE, Marsh ED. Spatiotemporal Mapping of Interictal Spike Propagation: A Novel Methodology Applied to Pediatric Intracranial EEG Recordings. Front Neurol. 2016 Dec 19;7:229. doi: 10.3389/fneur.2016.00229. eCollection 2016.
Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stülpnagel-Steinbeis C, Hu C, Kusumoto H, Hedrich UB, Elsen G, Hörtnagel K, Aizenman E, Lemke JR, Hakonarson H, Traynelis SF, Falk MJ. GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. Am J Hum Genet. 2016 Oct 6;99(4):802-816. doi: 10.1016/j.ajhg.2016.07.013. Epub 2016 Sep 8.
Hazra A, Corbett BF, You JC, Aschmies S, Zhao L, Li K, Lepore AC, Marsh ED, Chin J. Corticothalamic network dysfunction and behavioral deficits in a mouse model of Alzheimer's disease. Neurobiol Aging. 2016 Aug;44:96-107. doi: 10.1016/j.neurobiolaging.2016.04.016. Epub 2016 Apr 29.
Marsh ED, Nasrallah MP, Walsh C, Murray KA, Nicole Sunnen C, McCoy A, Golden JA. Developmental interneuron subtype deficits after targeted loss of Arx. BMC Neurosci. 2016 Jun 10;17(1):35. doi: 10.1186/s12868-016-0265-8.
2015
Ng JM, Martinez D, Marsh ED, Zhang Z, Rappaport E, Santi M, Curran T. Generation of a mouse model of atypical teratoid/rhabdoid tumor of the central nervous system through combined deletion of Snf5 and p53. Cancer Res. 2015 Nov 1;75(21):4629-39. doi: 10.1158/0008-5472.CAN-15-0874. Epub 2015 Sep 11.
Skjei KL, Church EW, Harding BN, Santi M, Holland-Bouley KD, Clancy RR, Porter BE, Heuer GG, Marsh ED. Clinical and histopathological outcomes in patients with SCN1A mutations undergoing surgery for epilepsy. J Neurosurg Pediatr. 2015 Dec;16(6):668-74. doi: 10.3171/2015.5.PEDS14551. Epub 2015 Sep 4.
2014
Bourgeois EB, Johnson BN, McCoy AJ, Trippa L, Cohen AS, Marsh ED. A toolbox for spatiotemporal analysis of voltage-sensitive dye imaging data in brain slices. PLoS One. 2014 Sep 26;9(9):e108686. doi: 10.1371/journal.pone.0108686. eCollection 2014.
Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Guo Y, Tian L, Palmieri F, Hakonarson H. Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. JIMD Rep. 2014;14:119. doi: 10.1007/8904_2014_314. Epub 2014 Jun 29. No abstract available.
Pierson Tyler Mark, Yuan Hongjie, Marsh Eric D, Fuentes-Fajardo Karin, Adams David R, Markello Thomas, Golas Gretchen, Simeonov Dimitre R, Holloman Conisha, Tankovic Anel, Karamchandani Manish M, Schreiber John M, Mullikin James C, Tifft Cynthia J, Toro Camilo, Boerkoel Cornelius F, Traynelis Stephen F, Gahl William A: GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. Annals of clinical and translational neurology 1(3): 190-198, 2014.
Simonet Jacqueline C, Sunnen C Nicole, Wu Jue, Golden Jeffrey A, Marsh Eric D: Conditional Loss of Arx From the Developing Dorsal Telencephalon Results in Behavioral Phenotypes Resembling Mild Human ARX Mutations. Cerebral cortex (New York, N.Y. : 1991) 2014.
Matalon Dena, Goldberg Ethan, Medne Livija, Marsh Eric D: Confirming an expanded spectrum of SCN2A mutations: a case series. Epileptic disorders : international epilepsy journal with videotape 16(1): 13-8, 2014.
Sunnen C Nicole, Simonet Jacqueline C, Marsh Eric D, Golden Jeffrey A: Arx is required for specification of the zona incerta and reticular nucleus of the thalamus. Journal of neuropathology and experimental neurology 73(3): 253-61, 2014.
Falk Marni J, Li Dong, Gai Xiaowu, McCormick Elizabeth, Place Emily, Lasorsa Francesco M, Otieno Frederick G, Hou Cuiping, Kim Cecilia E, Abdel-Magid Nada, Vazquez Lyam, Mentch Frank D, Chiavacci Rosetta, Liang Jinlong, Liu Xuanzhu, Jiang Hui, Giannuzzi Giulia, Marsh Eric D, Yiran Guo, Tian Lifeng, Palmieri Ferdinando, Hakonarson Hakon: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. JIMD reports 2014.
Lectures by Invitation
2018
Marsh E. "The emerging data for Cannabinoids in Epilepsy", George Washington University, Washington DC. Jun 2018.
Marsh E. "Cannabinoids in Epilepsy", International Conference on the Science of Botanicals, Oxford Miss. Apr 2018.
Marsh E. "Understanding the epileptic encephalopathies: Arx as a model disorder", SickKids Hospital, Toronto Canada. Apr 2018.
2017
Marsh E. "Electrophysiological Biomakers Session: Introduction and Moderator", Neurodevelopmental disabilities Biomarkers Symposium- NICHD, Bethesda MD. Dec 2017.
Marsh E. "Medical Marijuana- Benefits, Side Effects, and the Law", Richmond University Medical Center, New York, NY. May 2017.
Books
Devinsky O, Conway E, Glick S: Epilepsy in Children: What Every Parent Needs to Know. Demos Medical Books. Demos Health, Page: 320 pages, Dec 2015 Notes: Edited and reviewed multiple chapters and acknowledged in booksISBN-10: 1936303787.
Chapters
2017
Helbig I, von Deimling M, and Marsh ED: Epileptic encephalopathies as neurodegenerative disorders Neurodegenerative Diseases: Pathology, Mechanisms, and Potential Therapeutic Targets: Advances in Neurobiology. Philip Beart, Michael Robinson, Marcus Rattray, Nicholas Maragakis (eds.). Springer, 15: 295-315, 2017.
von Deimling M, Helbig I, and Marsh ED,: Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts. Current Neurology and Neuroscience Reports. Drs. Fahn, Brust, and Kaufman (eds.). Springer, 2(10), Feb 2017.
2013
Abend NS, Marsh E, Dlugos DJ.: Status Epilepticus Requisites in Pediatrics (Critical Care Edition). Mark Helfer and Danielle Davis (eds.). Elsevier, 2013.
2012
Marsh, E. D. and Golden, J. A.: Aristaless-related homeobox mutations Jasper's Basic Mechanisms of the Epilepsies. Jeffrey L Noebels, Massimo Avoli, Michael A Rogawski, Richard W Olsen, and Antonio V Delgado-Escueta (eds.). Oxford University Press, 4: Chapter 63, June 2012.
2008
Marsh, E., and Brooks-Kayal, A.: Partial and Generalized Seizures. The 5-Minute Pediatric Clinical Consult. M. William Schwartz (eds.). Lippincott Williams & Wilkens, 5th Edition : 762-63, 2008.
Marsh, E. and Brooks-Kayal, A: Status Epilepticus. The 5-Minute Pediatric Clinical Consult. M. William Schwartz (eds.). Lippincott Williams & Wilkens, 5th Edition: 800-01, 2008.
Marsh, E. and Brooks-Kayal, A: Coma The 5-Minute Pediatric Clinical Consult. M. William Schwartz (eds.). Lippincott Williams & Wilkens, 5th Edition: 20-21, 2008.
Marsh, E. and Brooks-Kayal, A: Febrile Seizures The 5-Minute Pediatric Clinical Consult. M. William Schwartz (eds.). Lippincott Williams & Wilkens, 5th Edition: 760-61, 2008.
Marsh, E. and Brooks-Kayal, A: Infantile Spasms. The 5-Minute Pediatric Clinical Consult. M. William Schwartz (eds.). Lippincott Williams & Wilkens, 5th Edition: 484-85, 2008.
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