Ingo Helbig, M.D.

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Assistant Professor of Neurology
Department: Neurology

Contact information
The Children's Hospital of Philadelphia
3400 Civic Center Blvd.
Philadelphia, PA 19104
Education:
M.D. (Clinical Medical)
University of Heidelberg, Germany, 2005.
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Description of Research Expertise

Gene findings for epileptic encephalopathies
Group was pivotal in the discovery of GRIN2A, CHD2, KCNA2, HCN1 and DNM1.

Gene discovery in familial epilepsies

Copy number variations in common epilepsies

Building of collaborative resources, science communication

Selected Publications

Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL 2nd, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS: Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia 59(2): 389-402, February 2018.

Zaman T, Helbig I, Božović IB, DeBrosse SD, Bergqvist AC, Wallis K, Medne L, Maver A, Peterlin B, Helbig KL, Zhang X, Goldberg EM: Mutations in SCN3A cause early infantile epileptic encephalopathy. Ann Neurol February 2018.

Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller RS, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, Robinson PN, Schelhaas HJ, Weber Y, Helbig I, Mundlos S, Horn D, Krawitz PM: Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. Genome Med January 2018.

Helbig I, Adang L: Teaching NeuroImages: Atrophy in epileptic encephalopathy. Neurology January 2018.

Santolini I, Celli R, Cannella M, Imbriglio T, Guiducci M, Parisi P, Schubert J, Iacomino M, Zara F, Lerche H; EuroEPINOMICS CoGIE Consortium; Genetic Commission of Italian League Against Epilepsy (LICE), Moyanova S, Ngomba RT, van Luijtelaar G, Battaglia G, Bruno V, Striano P, Nicoletti F: Alterations in the α2 δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies. Epilepsia 58(11), November 2017 Notes: doi: 10.1111/epi.13898.

de Kovel CGF, Syrbe S, Brilstra EH, Verbeek N, Kerr B, Dubbs H, Bayat A, Desai S, Naidu S, Srivastava S, Cagaylan H, Yis U, Saunders C, Rook M, Plugge S, Muhle H, Afawi Z, Klein KM, Jayaraman V, Rajagopalan R, Goldberg E, Marsh E, Kessler S, Bergqvist C, Conlin LK, Krok BL, Thiffault I, Pendziwiat M, Helbig I, Polster T, Borggraefe I, Lemke JR, van den Boogaardt MJ, Møller RS, Koeleman BPC: Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. JAMA Neurol 74(10): 1228-1236, October 2017 Notes: doi: 10.1001/jamaneurol.2017.1714.

Pérez-Palma E, Helbig I, Klein KM, Anttila V, Horn H, Reinthaler EM, Gormley P, Ganna A, Byrnes A, Pernhorst K, Toliat MR, Saarentaus E, Howrigan DP, Hoffman P, Miquel JF, De Ferrari GV, Nürnberg P, Lerche H, Zimprich F, Neubauer BA, Becker AJ, Rosenow F, Perucca E, Zara F, Weber YG, Lal D: Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies. J Med Genet 54(9): 598-606, September 2017 Notes: doi: 10.1136/jmedgenet-2016-104495.

Masnada S, Hedrich UBS, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH, Synofzik M, Bast T, Gorman K, King MD, Allen NM, Conroy J, Ben Zeev B, Tzadok M, Korff C, Dubois F, Ramsey K, Narayanan V, Serratosa JM, Giraldez BG, Helbig I, Marsh E, O'Brien M, Bergqvist CA, Binelli A, Porter B, Zaeyen E, Horovitz DD, Wolff M, Marjanovic D, Caglayan HS, Arslan M, Pena SDJ, Sisodiya SM, Balestrini S, Syrbe S, Veggiotti P, Lemke JR, Møller RS, Lerche H, Rubboli G: Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies. Brain 140(9): 2337-2354, September 2017 Notes: doi: 10.1093/brain/awx184.

Pearson TS, Helbig I: Epileptic encephalopathy, movement disorder, and the yin and yang of GNAO1 function. Neurology 89(8): 754-755, August 2017.

Helbig I, von Deimling M, Marsh ED: Epileptic Encephalopathies as Neurodegenerative Disorders. Adv Neurobiol 15: 295-315, July 2017.

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Last updated: 03/27/2018
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