Ingo Helbig, M.D.
Associate Professor of Neurology
Department: Neurology
Contact information
The Children's Hospital of Philadelphia
3400 Civic Center Blvd.
Philadelphia, PA 19104
3400 Civic Center Blvd.
Philadelphia, PA 19104
Graduate Group Affiliations
Links
Homepage of research group
"Beyond the Ion Channel" - blog of the Genetics Commission of the International League Against Epilepsy. I am the main author of this peer-to-peer blog, which has become an authoritative source in the field of neurogenetics with >10,000 monthly views.
Homepage of research group
"Beyond the Ion Channel" - blog of the Genetics Commission of the International League Against Epilepsy. I am the main author of this peer-to-peer blog, which has become an authoritative source in the field of neurogenetics with >10,000 monthly views.
Education
M.D. (Clinical Medical)
University of Heidelberg, Germany, 2005.
M.D. (Clinical Medical)
University of Heidelberg, Germany, 2005.
Post-Graduate Training
Postdoctoral Fellow-Pediatric Epileptology, Austin Hospital, Melbourne Australia, 2005-2007.
Pediatric Resident, University medical Center, Schleswig-Holstein, 2007-2012.
Neuropediatric Resident, University medical Center, Schleswig-Holstein, 2012-2014.
Child Neurology Resident, The Children's Hospital of Philadelphia, 2014-2017.
Permanent linkPostdoctoral Fellow-Pediatric Epileptology, Austin Hospital, Melbourne Australia, 2005-2007.
Pediatric Resident, University medical Center, Schleswig-Holstein, 2007-2012.
Neuropediatric Resident, University medical Center, Schleswig-Holstein, 2012-2014.
Child Neurology Resident, The Children's Hospital of Philadelphia, 2014-2017.
Description of Clinical Expertise
Neurology, Neurogenetics, Epilepsy, Pediatric NeurologyDescription of Research Expertise
Gene findings for epileptic encephalopathiesGroup 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
McKee JL, Ruggiero SM, Cunningham K, Coyne J, McSalley I, Kaufman MC, Bane B, Chisari T, Toib J, Glatts C, Tefft S, Orlando JM, Padmanabhan V, Gonzalez AK, Harrison A, Woo C, Zbikowski SA, Dhaduk R, Mercurio J, McCarthy M, Magielski JH, Grinspan Z, Abbott M, Knowles J, Chao HT, Xiong K, Berry-Kravis E, Tabarestani S, Graglia JM, Helde K, McNamar V, Son Rigby C, Goss J, Demarest S, Miele A, Prosser B, Boland MJ, Pierce SR, Helbig I.: A prospective natural history study protocol for clinical trial readiness in synaptic disorders. Epilepsia Jul 2026.Bochtler KS, Batterman AI, Koh HY, Kessler R, Esparza C, Shon J, Kaufman MC, Helbig I, Cuddapah VA.: Monogenic epilepsies exhibit distinct sleep endophenotypes. medRxiv Jun 2026.
Smith L, Bonkowski E, Prentice A, Cohen S, Lusk L, Parthasarathy S, Burns B, Butler E, Chen Y, Dady K, Dugger S, Ing A, Lassiter R, Lewis-Smith D, Mulhern M, Nguyen JNH, Olival J, Sajan SA, Thompson CH, George AL Jr, Wagnon J, Yergert K, Magielski JH, McKee JL, Riggs E, Wiltrout K, Poduri A, Helbig I, Mefford HC.: ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel. Genet Med Jun 2026.
Sandoval Karamian AG, Zhu T, Huang H, Massey SL, Fitzgerald MP, Parikh D, Vossough A, Helbig I, Abend NS.: White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy. Ann Clin Transl Neurol May 2026.
Harrison AG, Ganesan S, Xie HM, Parthasarathy S, McKee JL, Magielski JH, Thalwitzer K, Lobo R, Pendziwiat M, van Baalen A, Muhle H, Poduri A, Mo A, Wiegand G, Õunap K, Bruel AL, Scala M, Capra V, Ruggiero SM, Helbig I.: DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity. medRxiv Apr 2026.
Pierce SR, Orlando JM, Cunningham KG, Ruggiero SM, Kaufman MC, McKee JL, Helbig I.: Reliability and stability of cerebral palsy classification scales for individuals with STXBP1- and SYNGAP1-related disorders. Dev Med Child Neurol Apr 2026.
Wang R, Wang F, DeBruyne N, Ji X, Engelhardt NM, Park JJ, Notaro A, Gaerlan S, Park R, Schultz MJ, Clever S, McCormick EM, Keith K, Ng BG, Kadash-Edmondson KE, Freeze HH, Lam CT, Morava E, Helbig I, Falk MJ, Ganetzky RD, Edmondson AC, Lin L, Xing Y.: Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation. Sci Adv 12: eady9895, Apr 2026.
Prentice AJ, McSalley I, Magielski JH, Mercurio J, Tefft S, Winters A, Kaufman MC, Ruggiero SM, McGarry L, Hood V, McKee JL, Goldberg E, Helbig I.: Characterizing SCN1A-Related Disorders Using Real-World Data Across 681 Patient-Years. medRxiv Mar 2026.
Shimelis H, Oetjens MT, McGivern B, Zhang Z, Stanton JE, McSalley I, Ganesan S, Finucane BM, Helbig I, Martin CL, Myers SM, Ledbetter DH.: Shared and distinct phenotypic profiles among neurodevelopmental disorder genes. medRxiv Mar 2026.
Brünger T, Krey I, Kim S, Klöckner C, Myers SJ, Johannesen KM, Stefanski A, Taylor G, Perez-Palma E, Macnee M, Schorge S, Dahl RS, Yuan H, Perszyk RE, Kim S, Bajaj S, Helbig I, Pan JQ, Farrant M, Wollmuth L, Wyllie DJA, Kurganov E, Baez D, Zuberi S, Boßelmann CM, Lerche H, Mantegazza M, Cestèle S, May P, Ivaniuk A, Meskis MA, Hood V, Schust L, Goodspeed K, Kang JQ, Freed A, Gati C, Montanucci L, Wuster A, Trinidad M, Froelich S, Deng AT, Serrano ÁA, Borovikov A, Sharkov A, Bouman A, Hajianpour MJ, Pal DK, Danvoye L, Lederer D, Balci TR, Hagebeuk EEO, Heidlebaugh A, Oetjens K, Hoffman TL, Striano P, Williams SD, van Engelen K, Howell KB, Khoury J, Benke TA, Strehlow V, Platzer K, Ramsey A, Manaster L, Malepati S, Fox P, Noebels J, Chung W, Poduri A, Stripe LL, Ruggiero SM, Cohen S, Smith L, Boesch S, Wilmarth O, Prentice AJ, Cha E, Budnik N, Hommersom MP, Kramer A, Vanoye CG, Zhang GQ, Nothnagel M, Palotie A, Daly MJ, George AL Jr, Zarate YA, Brunklaus A, Traynelis SF, Møller RS, Lemke JR, Lal D.: Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification. medRxiv Mar 2026.