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

Reif PS, Tsai MH, Helbig I, Rosenow F, Klein KM: Precision medicine in genetic epilepsies: break of dawn? Expert Rev Neurother 17(4): 381-392, April 2017.

Marini C, Hardies K, Pisano T, May P, Weckhuysen S, Cellini E, Suls A, Mei D, Balling R, Jonghe PD, Helbig I, Garozzo D; EuroEPINOMICS consortium AR working group., Guerrini R.: Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects. Am J Med Genet A 173(4): 1119-1123, April 2017.

von Deimling M, Helbig I, Marsh ED: Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts. Curr Neurol Neurosci Rep 17(2): 10, February 2017.

von Deimling M, Häsler R, Steinbach V, Holterhus PM, von Spiczak S, Stephani U, Helbig I, Muhle H.: Gene expression analysis in untreated absence epilepsy demonstrates an inconsistent pattern. Epilepsy Res. 132: 84-90, February 2017 Notes: epub ahead of print.

Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN: The Human Phenotype Ontology in 2017. Nucleic Acids Res 4(45): D865-876, January 2017.

Møller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, Chatron N, Holert N, Jacobs J, Swinkels M, Betzler C, Syrbe S, Nikanorova M, Myers CT, Larsen LH, Vejzovic S, Pendziwiat M, von Spiczak S, Hopkins S, Dubbs H, Mang Y, Mukhin K, Holthausen H, van Gassen KL, Dahl HA, Tommerup N, Mefford HC, Rubboli G, Guerrini R, Lemke JR, Lerche H, Muhle H, Maljevic S.: Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. Neurology 88(5): 483-492, January 2017.

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 140(1): 49-67, January 2017.

H. Stamberger, A. Siekerska, S. Oprescu, W. Quinten, K. Helbig, K. Hardies, T. Deconinck, D. Shinde, I. Helbig, J. Hersh, P. Lakeman, E. Schmitt, S. Von Spiczak, M. Weiss, S. Weckhuysen, A. Anthony, P. de WItte, P. De Jonghe: Recessive Variants in VARS Cause a Clinical Syndrome with Severe Developmental Delay, Epilepsy and Microcephaly and Might Cause Intra-Uterine Lethality at the Other End of the Spectrum. 70th Annual Meeting of the American Epilepsy Society. Houston, TX December 2016 Notes: Poster.

Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M, Fluss J, de Bellescize J, Scholly J, Møller RS, Craiu D, Tommerup N, Valenti-Hirsch MP, Schluth-Bolard C, Sloan-Béna F, Helbig KL, Weckhuysen S, Edery P, Coulbaut S, Abbas M, Scheffer IE, Tang S, Myers CT, Stamberger H, Carvill GL, Shinde DN, Mefford HC, Neagu E, Huether R, Lu HM, Dica A, Cohen JS, Iliescu C, Pomeran C, Rubenstein J, Helbig I, Sanlaville D, Hirsch E, Szepetowski P: Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy. Eur J Hum Genet 24(12): 1761-1770, December 2016.

de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MT, De St Martin A, Chelly J: De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy. J Med Genet 53(12): 850-858, December 2016.

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Last updated: 04/07/2017
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