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Mark P Fitzgerald, MD PhD
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Associate Professor of Clinical Neurology
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Attending Physician, Children's Hospital of Philadelphia, University of Pennsylvania
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Department: Neurology
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Contact information
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3401 Civic Center Blvd
1d Division of Neurology
4c The Hub for Clinical Collaboration, 10553
Philadelphia, PA 19104
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1d Division of Neurology
4c The Hub for Clinical Collaboration, 10553
Philadelphia, PA 19104
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Office: 2155901719
30 Fax: 2155901771
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30 Fax: 2155901771
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Email:
fitzgeraldmp@chop.edu
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fitzgeraldmp@chop.edu
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Publications
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Links
94 Search PubMed for articles
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94 Search PubMed for articles
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Education:
21 7 BS 31 (Psychology, Philosophy, Neuroscience) c
2f University of Scranton, 2002.
21 8 PhD 19 (Neuroscience) c
2f University of Virginia, 2010.
21 7 MD 15 (Medicine) c
2f University of Virginia, 2011.
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Permanent link21 7 BS 31 (Psychology, Philosophy, Neuroscience) c
2f University of Scranton, 2002.
21 8 PhD 19 (Neuroscience) c
2f University of Virginia, 2010.
21 7 MD 15 (Medicine) c
2f University of Virginia, 2011.
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Description of Clinical Expertise
44 Neonatal and early life epilepsies, Genetic epilepsy71
Description of Research Expertise
b0 I am interested in neurodevelopmental and epilepsy outcomes in patients with neonatal and early-onset epilepsy, particularly epilepsies with a genetic etiology.e 29
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2f ect 761 Asadollahi R, Ahmad A, Boonsawat P, Shahanoor Hinzen J, Lohse M, Bouazza-Arostegui B, Sun S, Utesch T, Sommer JD, Ilic D, Padmanarayana M, Fischermanns K, Ranjan M, Boll M, Ka C, Piton A, Mattioli F, Isidor B, Õunap K, Reinson K, Wojcik MH, Marshall CR, Mercimek-Andrews S, Matsumoto N, Miyake N, Stephan BO, Honjo RS, Bertola DR, Kim CA, Yusupov R, Mefford HC, Christodoulou J, Lee J, Heath O, Brown NJ, Baker N, Stark Z, Delatycki M, Lake NJ, Zeidler S, Zuurbier L, Maas SM, de Kruiff CC, Rajabi F, Rodan LH, Coury SA, Platzer K, Oppermann H, Abou Jamra R, Beblo S, Maxton C, Śmigiel R, Underhill H, Dubbs H, Rosen A, Helbig KL, Helbig I, Ruggiero SM, Fitzgerald MP, Kraemer D, Prada CE, Tenney J, Jayakar P, Redon S, Lefranc J, Uguen K, Race S, Efthymiou S, Maroofian R, Houlden H, Coppens S, Deconinck N, Ashokkumar B, Varalakshmi P, Gowda K VR, Eghbal F, Ghayoor Karimiani E, Heidari M, Neidhardt J, Owczarek-Lipska M, Korenke GC, Bamshad MJ, Campeau PM, Lehman A, Hendon LG, Wentzensen IM, Monaghan KG, Chen Y, Szuto A, Cohn RD, Au PYB, Hübner C, Boschann F, Manickam K, Koboldt DC, Rad A, Oprea G, Bachman KK, Seeley AH, Agolini E, Terracciano A, Carmelo P, Bupp C, Grysko B, Rein-Rothschild A, Ben Zeev B, Margolin A, Morrison J, Dagli A, Stolerman E, Louie RJ, Washington C, Stevens SJC, Heijligers M, Alkuraya FS, Lisfeld J, Neu A, Paoli Monteiro F, Santos Pessoa AL, Camelo-Filho AE, Kok F, Koeberl D, Riley K, Burglen L, Doummar D, Héron B, Mignot C, Keren B, Charles P, Nava C, Bernhard FP, Kühn AA, Thoms S, Morrie RD, Mekhoubad S, Green EM, Barmada SJ, Gitler AD, Jahn O, Rhee JS, Rosenmund C, Mitkovski M, Sticht H, Sun H, Le Gac G, Taschenberger H, Brose N, Dittman JS, Rauch A, Lipstein N: Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function. Nature Genetics 57(11): 2691-2704, November 2025.
797 Asadollahi R, Ahmad A, Boonsawat P, Shahanoor Hinzen J, Lohse M, Bouazza-Arostegui B, Sun S, Utesch T, Sommer JD, Ilic D, Padmanarayana M, Fischermanns K, Ranjan M, Boll M, Ka C, Piton A, Mattioli F, Isidor B, Õunap K, Reinson K, Wojcik MH, Marshall CR, Mercimek-Andrews S, Matsumoto N, Miyake N, Stephan BO, Honjo RS, Bertola DR, Kim CA, Yusupov R, Mefford HC, Christodoulou J, Lee J, Heath O, Brown NJ, Baker N, Stark Z, Delatycki M, Lake NJ, Zeidler S, Zuurbier L, Maas SM, de Kruiff CC, Rajabi F, Rodan LH, Coury SA, Platzer K, Oppermann H, Abou Jamra R, Beblo S, Maxton C, Śmigiel R, Underhill H, Dubbs H, Rosen A, Helbig KL, Helbig I, Ruggiero SM, Fitzgerald MP, Kraemer D, Prada CE, Tenney J, Jayakar P, Redon S, Lefranc J, Uguen K, Race S, Efthymiou S, Maroofian R, Houlden H, Coppens S, Deconinck N, Ashokkumar B, Varalakshmi P, Gowda K VR, Eghbal F, Ghayoor Karimiani E, Heidari M, Neidhardt J, Owczarek-Lipska M, Korenke GC, Bamshad MJ, Campeau PM, Lehman A, Hendon LG, Wentzensen IM, Monaghan KG, Chen Y, Szuto A, Cohn RD, Au PYB, Hübner C, Boschann F, Manickam K, Koboldt DC, Rad A, Oprea G, Bachman KK, Seeley AH, Agolini E, Terracciano A, Carmelo P, Bupp C, Grysko B, Rein-Rothschild A, Ben Zeev B, Margolin A, Morrison J, Dagli A, Stolerman E, Louie RJ, Washington C, Stevens SJC, Heijligers M, Alkuraya FS, Lisfeld J, Neu A, Paoli Monteiro F, Santos Pessoa AL, Camelo-Filho AE, Kok F, Koeberl D, Riley K, Burglen L, Doummar D, Héron B, Mignot C, Keren B, Charles P, Nava C, Bernhard FP, Kühn AA, Thoms S, Morrie RD, Mekhoubad S, Green EM, Barmada SJ, Gitler AD, Jahn O, Rhee JS, Rosenmund C, Mitkovski M, Sticht H, Sun H, Le Gac G, Taschenberger H, Brose N, Dittman JS, Rauch A, Lipstein N.: Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function. Nat Genet. Page: doi: 10.1038/s41588-025-02361-5, Oct 2025.
4d5 Dekker J, Schot R, Aldinger KA, Everman DB, Washington C, Jones JR, Sullivan JA, Spillmann RC, Shashi V, Vitobello A, Denommé-Pichon AS, Mosca-Boidron AL, Perrin L, Auvin S, Zaki MS, Gleeson JG, Meave N, Wallace C, Nambot S, Delanne J, Ruggiero SM, Helbig I, Fitzgerald MP, Leventer RJ, Grange DK, Argilli E, Sherr EH, Prakash S, Neilson DE, Nicita F, Sferra A, Bertini ES, Aiello C, Brockmann K, Kuranov AB, Kaulfuss S, Basit S, Alluqmani M, Almatrafi A, Friedman JM, Guimond C, Mohammed F, Sharma P, Goel D, Wirth T, Anheim M, Bahena P, Koparir A, Kolokotronis K, Vona B, Haaf T, Kunstmann E, Maroofian R, Sczakiel HL, Boschann F, Misra-Isrie M, Louie RJ, Stolerman ES, Sanchez-Lara PA, Mergler S, Oegema R, Zarate YA, Kariminejad A, Tajsharghi H, Zeidler S, Kievit AJA, Bouman A, Cappuccio G, Brunetti-Pierri N, Stuurman KE, Swols DM, Tekin M, Upadia J, Martin DM, Craven D, Hiatt SM, van de Pol LA, D'Arco F, Margot H, Wilke M, Yousefi S, Barakat TS, van Veghel-Plandsoen MM, Aronica E, Anink J, Rogers SL, Slep KC, Doherty D, Dobyns WB, Mancini GMS.: A clinical and genotype-phenotype analysis of MACF1 variants. Am J Hum Genet. 112(10): 2363-2380, Oct 2025.
13f Sarah Woodson, William D. James, Rudolf Roth, John S. Barbieri, Sherry Ershadi, Debby Cheng, and Mark P. Fitzgerald: Mosaic Ring 20 Syndrome: A Meta Analysis. Neurology: Genetics 16(11(4)): e200282. doi: 10.1212/NXG.0000000000200282, August 2025.
13f The SCN8A Research Consortium. : A research roadmap for SCN8A-related disorders: addressing knowledge gaps and aligning research priorities across stakeholders. Orphanet J Rare Dis 20(444): https://doi.org/10.1186/s13023-025-03672-w, August 2025.
22f Laura Jolitz Ingo Helbig, Mark P Fitzgerald, Sarah McKeown Ruggiero, Stacey Cohen, Chloe Angelini, Elena Vallespin, Vincent Michaud, Anna Gerasimenko, Benjamin Cogne, Bertrand Isidor, Boris Keren, David Dyment, Delphine Heron, Helena Gásdal Karstensen, Inge Cuppen, John Christodoulou, Meredith Wilson, Nicole J Lake, Saskia Biskup, Steffen Syrbe, Takayasu Mori, Lena-Luise Becker, Angela M Kaindl: Phenotype Spectrum of TRPM3-Associated Disorders. Ann Neurol 97(3): 561-570, Mar 2025.
1b3 Jolitz L, Helbig I, Fitzgerald MP, McKeown Ruggiero S, Cohen S, Angelini C, Vallespin E, Michaud V, Gerasimenko A, Cogne B, Isidor B, Keren B, Dyment D, Heron D, Karstensen HG, Cuppen I, Christodoulou J, Wilson M, Lake NJ, Biskup S, Syrbe S, Mori T, Becker LL, Kaindl AM: Phenotype Spectrum of TRPM3-Associated Disorders. Ann Neurol. 97(3): 561-570, March 2025.
1a2 Shavonne L. Massey; Amanda G. Sandoval Karamian; Mark P. Fitzgerald; France W. Fung; Abigail Abramson; Mandy K. Salmon; Darshana Parikh; Nicholas S. Abend: Development of a model to predict electroencephalographic seizures in neonates with hypoxic ischemic encephalopathy treated with therapeutic hypothermia. Epilepsia 66(2): 518-530, Feb 2025.
6e Gabrielle Conecker, Maya Y Xia, JayEtta Hecker, Christelle Achkar, 209 Cristine Cukiert, Seth Devries, Elizabeth Donner, Mark Fitzgerald, Elena Gardella, Michael Hammer, Anaita Hegde, Chunhui Hu, Mitsuhiro Kato, Tian Luo, John M. Schreiber, Yi Wang, Tammy Kooistra, Madeleine Oudin, Kayla Waldrop, J. Tyler Youngquist, Dennis Zhang, Elaine Wirrell, M. Scott Perry: Global modified Delphi consensus on diagnosis, phenotypes, and treatment of SCN8A-related epilepsy and/or neurodevelopmental disorders. Epilepsia Page: https://doi.org/10.1111/epi.17992, May 2024.
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Selected Publications
207 Ellis CA, Copeland J, Velez I, Oliver KL, Shalaby H, Baldwin A, Armstrong C, Back A, Berlin B, Cohen S, Cuddapah VA, deCampo D, Dubbs H, Ginn N, Harrison AG, Lewin N, Lusk L, Marsh ED, Massey SL, McDonnell PP, McKee JL, Ortiz-Gonzalez X, Prentice AJ, Sullivan KR, Ruggiero SM, Fitzgerald MP, Goldberg EM, Helbig I: Genetic testing for familial epilepsies: Diagnostic yield and genetic findings. Epilepsia Page: doi: 10.1002/epi.70160, March 2026.2f ect 761 Asadollahi R, Ahmad A, Boonsawat P, Shahanoor Hinzen J, Lohse M, Bouazza-Arostegui B, Sun S, Utesch T, Sommer JD, Ilic D, Padmanarayana M, Fischermanns K, Ranjan M, Boll M, Ka C, Piton A, Mattioli F, Isidor B, Õunap K, Reinson K, Wojcik MH, Marshall CR, Mercimek-Andrews S, Matsumoto N, Miyake N, Stephan BO, Honjo RS, Bertola DR, Kim CA, Yusupov R, Mefford HC, Christodoulou J, Lee J, Heath O, Brown NJ, Baker N, Stark Z, Delatycki M, Lake NJ, Zeidler S, Zuurbier L, Maas SM, de Kruiff CC, Rajabi F, Rodan LH, Coury SA, Platzer K, Oppermann H, Abou Jamra R, Beblo S, Maxton C, Śmigiel R, Underhill H, Dubbs H, Rosen A, Helbig KL, Helbig I, Ruggiero SM, Fitzgerald MP, Kraemer D, Prada CE, Tenney J, Jayakar P, Redon S, Lefranc J, Uguen K, Race S, Efthymiou S, Maroofian R, Houlden H, Coppens S, Deconinck N, Ashokkumar B, Varalakshmi P, Gowda K VR, Eghbal F, Ghayoor Karimiani E, Heidari M, Neidhardt J, Owczarek-Lipska M, Korenke GC, Bamshad MJ, Campeau PM, Lehman A, Hendon LG, Wentzensen IM, Monaghan KG, Chen Y, Szuto A, Cohn RD, Au PYB, Hübner C, Boschann F, Manickam K, Koboldt DC, Rad A, Oprea G, Bachman KK, Seeley AH, Agolini E, Terracciano A, Carmelo P, Bupp C, Grysko B, Rein-Rothschild A, Ben Zeev B, Margolin A, Morrison J, Dagli A, Stolerman E, Louie RJ, Washington C, Stevens SJC, Heijligers M, Alkuraya FS, Lisfeld J, Neu A, Paoli Monteiro F, Santos Pessoa AL, Camelo-Filho AE, Kok F, Koeberl D, Riley K, Burglen L, Doummar D, Héron B, Mignot C, Keren B, Charles P, Nava C, Bernhard FP, Kühn AA, Thoms S, Morrie RD, Mekhoubad S, Green EM, Barmada SJ, Gitler AD, Jahn O, Rhee JS, Rosenmund C, Mitkovski M, Sticht H, Sun H, Le Gac G, Taschenberger H, Brose N, Dittman JS, Rauch A, Lipstein N: Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function. Nature Genetics 57(11): 2691-2704, November 2025.
797 Asadollahi R, Ahmad A, Boonsawat P, Shahanoor Hinzen J, Lohse M, Bouazza-Arostegui B, Sun S, Utesch T, Sommer JD, Ilic D, Padmanarayana M, Fischermanns K, Ranjan M, Boll M, Ka C, Piton A, Mattioli F, Isidor B, Õunap K, Reinson K, Wojcik MH, Marshall CR, Mercimek-Andrews S, Matsumoto N, Miyake N, Stephan BO, Honjo RS, Bertola DR, Kim CA, Yusupov R, Mefford HC, Christodoulou J, Lee J, Heath O, Brown NJ, Baker N, Stark Z, Delatycki M, Lake NJ, Zeidler S, Zuurbier L, Maas SM, de Kruiff CC, Rajabi F, Rodan LH, Coury SA, Platzer K, Oppermann H, Abou Jamra R, Beblo S, Maxton C, Śmigiel R, Underhill H, Dubbs H, Rosen A, Helbig KL, Helbig I, Ruggiero SM, Fitzgerald MP, Kraemer D, Prada CE, Tenney J, Jayakar P, Redon S, Lefranc J, Uguen K, Race S, Efthymiou S, Maroofian R, Houlden H, Coppens S, Deconinck N, Ashokkumar B, Varalakshmi P, Gowda K VR, Eghbal F, Ghayoor Karimiani E, Heidari M, Neidhardt J, Owczarek-Lipska M, Korenke GC, Bamshad MJ, Campeau PM, Lehman A, Hendon LG, Wentzensen IM, Monaghan KG, Chen Y, Szuto A, Cohn RD, Au PYB, Hübner C, Boschann F, Manickam K, Koboldt DC, Rad A, Oprea G, Bachman KK, Seeley AH, Agolini E, Terracciano A, Carmelo P, Bupp C, Grysko B, Rein-Rothschild A, Ben Zeev B, Margolin A, Morrison J, Dagli A, Stolerman E, Louie RJ, Washington C, Stevens SJC, Heijligers M, Alkuraya FS, Lisfeld J, Neu A, Paoli Monteiro F, Santos Pessoa AL, Camelo-Filho AE, Kok F, Koeberl D, Riley K, Burglen L, Doummar D, Héron B, Mignot C, Keren B, Charles P, Nava C, Bernhard FP, Kühn AA, Thoms S, Morrie RD, Mekhoubad S, Green EM, Barmada SJ, Gitler AD, Jahn O, Rhee JS, Rosenmund C, Mitkovski M, Sticht H, Sun H, Le Gac G, Taschenberger H, Brose N, Dittman JS, Rauch A, Lipstein N.: Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function. Nat Genet. Page: doi: 10.1038/s41588-025-02361-5, Oct 2025.
4d5 Dekker J, Schot R, Aldinger KA, Everman DB, Washington C, Jones JR, Sullivan JA, Spillmann RC, Shashi V, Vitobello A, Denommé-Pichon AS, Mosca-Boidron AL, Perrin L, Auvin S, Zaki MS, Gleeson JG, Meave N, Wallace C, Nambot S, Delanne J, Ruggiero SM, Helbig I, Fitzgerald MP, Leventer RJ, Grange DK, Argilli E, Sherr EH, Prakash S, Neilson DE, Nicita F, Sferra A, Bertini ES, Aiello C, Brockmann K, Kuranov AB, Kaulfuss S, Basit S, Alluqmani M, Almatrafi A, Friedman JM, Guimond C, Mohammed F, Sharma P, Goel D, Wirth T, Anheim M, Bahena P, Koparir A, Kolokotronis K, Vona B, Haaf T, Kunstmann E, Maroofian R, Sczakiel HL, Boschann F, Misra-Isrie M, Louie RJ, Stolerman ES, Sanchez-Lara PA, Mergler S, Oegema R, Zarate YA, Kariminejad A, Tajsharghi H, Zeidler S, Kievit AJA, Bouman A, Cappuccio G, Brunetti-Pierri N, Stuurman KE, Swols DM, Tekin M, Upadia J, Martin DM, Craven D, Hiatt SM, van de Pol LA, D'Arco F, Margot H, Wilke M, Yousefi S, Barakat TS, van Veghel-Plandsoen MM, Aronica E, Anink J, Rogers SL, Slep KC, Doherty D, Dobyns WB, Mancini GMS.: A clinical and genotype-phenotype analysis of MACF1 variants. Am J Hum Genet. 112(10): 2363-2380, Oct 2025.
13f Sarah Woodson, William D. James, Rudolf Roth, John S. Barbieri, Sherry Ershadi, Debby Cheng, and Mark P. Fitzgerald: Mosaic Ring 20 Syndrome: A Meta Analysis. Neurology: Genetics 16(11(4)): e200282. doi: 10.1212/NXG.0000000000200282, August 2025.
13f The SCN8A Research Consortium. : A research roadmap for SCN8A-related disorders: addressing knowledge gaps and aligning research priorities across stakeholders. Orphanet J Rare Dis 20(444): https://doi.org/10.1186/s13023-025-03672-w, August 2025.
22f Laura Jolitz Ingo Helbig, Mark P Fitzgerald, Sarah McKeown Ruggiero, Stacey Cohen, Chloe Angelini, Elena Vallespin, Vincent Michaud, Anna Gerasimenko, Benjamin Cogne, Bertrand Isidor, Boris Keren, David Dyment, Delphine Heron, Helena Gásdal Karstensen, Inge Cuppen, John Christodoulou, Meredith Wilson, Nicole J Lake, Saskia Biskup, Steffen Syrbe, Takayasu Mori, Lena-Luise Becker, Angela M Kaindl: Phenotype Spectrum of TRPM3-Associated Disorders. Ann Neurol 97(3): 561-570, Mar 2025.
1b3 Jolitz L, Helbig I, Fitzgerald MP, McKeown Ruggiero S, Cohen S, Angelini C, Vallespin E, Michaud V, Gerasimenko A, Cogne B, Isidor B, Keren B, Dyment D, Heron D, Karstensen HG, Cuppen I, Christodoulou J, Wilson M, Lake NJ, Biskup S, Syrbe S, Mori T, Becker LL, Kaindl AM: Phenotype Spectrum of TRPM3-Associated Disorders. Ann Neurol. 97(3): 561-570, March 2025.
1a2 Shavonne L. Massey; Amanda G. Sandoval Karamian; Mark P. Fitzgerald; France W. Fung; Abigail Abramson; Mandy K. Salmon; Darshana Parikh; Nicholas S. Abend: Development of a model to predict electroencephalographic seizures in neonates with hypoxic ischemic encephalopathy treated with therapeutic hypothermia. Epilepsia 66(2): 518-530, Feb 2025.
6e Gabrielle Conecker, Maya Y Xia, JayEtta Hecker, Christelle Achkar, 209 Cristine Cukiert, Seth Devries, Elizabeth Donner, Mark Fitzgerald, Elena Gardella, Michael Hammer, Anaita Hegde, Chunhui Hu, Mitsuhiro Kato, Tian Luo, John M. Schreiber, Yi Wang, Tammy Kooistra, Madeleine Oudin, Kayla Waldrop, J. Tyler Youngquist, Dennis Zhang, Elaine Wirrell, M. Scott Perry: Global modified Delphi consensus on diagnosis, phenotypes, and treatment of SCN8A-related epilepsy and/or neurodevelopmental disorders. Epilepsia Page: https://doi.org/10.1111/epi.17992, May 2024.
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