Faculty

Ingo Helbig, M.D.

faculty photo
Assistant Professor of Neurology
Department: Neurology
Graduate Group Affiliations

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 Clinical Expertise

Neurology, Neurogenetics, Epilepsy, Pediatric Neurology

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

Helbig I, Ellis CA: Personalized medicine in genetic epilepsies - possibilities, challenges, and new frontiers. Neuropharmacology May 2020.

Rademacher A, Schwarz N, Seiffert S, Pendziwiat M, Rohr A, van Baalen A, Helbig I, Weber Y, Muhle H: Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy. Neuropediatrics May 2020.

Chatron N, Becker F, Morsy H, Schmidts M, Hardies K, Tuysuz B, Roselli S, Najafi M, Alkaya DU, Ashrafzadeh F, Nabil A, Omar T, Maroofian R, Karimiani EG, Hussien H, Kok F, Ramos L, Gunes N, Bilguvar K, Labalme A, Alix E, Sanlaville D, de Bellescize J, Poulat AL; EuroEpinomics-RES consortium AR working group, Moslemi AR, Lerche H, May P, Lesca G, Weckhuysen S, Tajsharghi H: Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. Brain 1(143(5)): 1447-1461, May 2020.

Bayat A, Knaus A, Pendziwiat M, Afenjar A, Stefan Barakat T, Bosch F, Callewaert B, Calvas P, Ceulemans B, Chassaing N, Depienne C, Endziniene M, Ferreira CR, Moura de Souza CF, Freihuber C, Ganesan S, Gataullina S, Guerrini R, Guerrot AM, Hansen L, Jezela-Stanek A, Karsenty C, Kievit A, Kooy FR, Korff CM, Kragh Hansen J, Larsen M, Layet V, Lesca G, McBride KL, Meuwissen M, Mignot C, Montomoli M, Moore H, Naudion S, Nava C, Nougues MC, Parrini E, Pastore M, Schelhaas JH, Skinner S, Szczałuba K, Thomas A, Thomassen M, Tranebjaerg L, van Slegtenhorst M, Wolfe LA, Lal D, Gardella E, Bomme Ousager L, Brünger T, Helbig I, Krawitz P, Møller RS : Lessons learned from 40 novel PIGA patients and a review of the literature Epilepsia May 2020.

Lal D, May P, Perez-Palma E, Samocha KE, Kosmicki JA, Robinson EB, Møller RS, Krause R, Nürnberg P, Weckhuysen S, De Jonghe P, Guerrini R, Niestroj LM, Du J, Marini C; EuroEPINOMICS-RES Consortium, Ware JS, Kurki M, Gormley P, Tang S, Wu S, Biskup S, Poduri A, Neubauer BA, Koeleman BPC, Helbig KL, Weber YG, Helbig I, Majithia AR, Palotie A, Daly MJ: Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders. Genome Med March 2020.

Adang LA, Pizzino A, Malhotra A, Dubbs H, Williams C, Sherbini O, Anttonen AK, Lesca G, Linnankivi T, Laurencin C, Milh M, Perrine C, Schaaf CP, Poulat AL, Ville D, Hagelstrom T, Perry DL, Taft RJ, Goldstein A, Vossough A, Helbig I, Vanderver A: Phenotypic and Imaging Spectrum Associated With WDR45. Pediatr Neurol March 2020.

Tan TY, Sedmík J, Fitzgerald MP, Halevy RS, Keegan LP, Helbig I, Basel-Salmon L, Cohen L, Straussberg R, Chung WK, Helal M, Maroofian R, Houlden H, Juusola J, Sadedin S, Pais L, Howell KB, White SM, Christodoulou J, O'Connell MA: Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures. Am J Hum Genet 2(106(4)): 467-483, March 2020.

Lewis-Smith D, Ellis CA, Helbig I, Thomas RH: Early-onset genetic epilepsies reaching adult clinics. Brain 1(143(3)), March 2020.

Mandl KD, Glauser T, Krantz ID, Avillach P, Bartels A, Beggs AH, Biswas S, Bourgeois FT, Corsmo J, Dauber A, Devkota B, Fleisher GR, Heath AP, Helbig I, Hirschhorn JN, Kilbourn J, Kong SW, Kornetsky S, Majzoub JA, Marsolo K, Martin LJ, Nix J, Schwarzhoff A, Stedman J, Strauss A, Sund KL, Taylor DM, White PS; Genomics Research and Innovation Network: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Genet Med 22(2): 371-380, February 2020.

Brunklaus A, Du J, Steckler F, Ghanty II, Johannesen KM, Fenger CD, Schorge S, Baez-Nieto D, Wang HR, Allen A, Pan JQ, Lerche H, Heyne H, Symonds JD, Zuberi SM, Sanders S, Sheidley BR, Craiu D, Olson HE, Weckhuysen S, DeJonge P, Helbig I, Van Esch H, Busa T, Milh M, Isidor B, Depienne C, Poduri A, Campbell AJ, Dimidschstein J, Møller RS, Lal D: Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia February 2020.

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Last updated: 05/29/2020
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