Ingo Helbig

Assistant Professor of Neurology

Department: Neurology

Graduate Group Affiliations

Genomics and Computational Biology

Contact information

The Children's Hospital of Philadelphia
3400 Civic Center Blvd.
Philadelphia, PA 19104

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.

Education:
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 link

> Perelman School of Medicine > Faculty > Details

Description of Itmat Expertise

Epilepsy Genetics
Neurogenetics
Clinical Neuroscience
Next Generation Sequencing
Data Science

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

Yuchen Xu, Rui Song, Riley E Perszyk, Wenjuan Chen, Sukhan Kim, Kristen L Park, James P Allen, Kelsey A Nocilla, Jing Zhang, Wenshu XiangWei, Anel Tankovic, Ellington D McDaniels, Rehan Sheikh, Ruth K Mizu, Manish M Karamchandani, Chun Hu, Hirofumi Kusumoto, Joseph Pecha, Gerarda Cappuccio, John Gaitanis, Jennifer Sullivan, Vandana Shashi, Slave Petrovski, Robin-Tobias Jauss, Hyun Kyung Lee, Xiuhua Bozarth, David R Lynch, Ingo Helbig, Tyler Mark Pierson, Cornelius F Boerkoel, Scott J Myers, Johannes R Lemke, Timothy A Benke, Hongjie Yuan, Stephen F Traynelis: De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. Cellular and Molecular Life Sciences March 2024.

Marcello Scala, Valeria Tomati, Matteo Ferla, Mariateresa Lena, Julie S Cohen, Ali Fatemi, Elly Brokamp, Anna Bican, John A Phillips, Mary E Koziura, Michael Nicouleau, Marlene Rio, Karine Siquier, Nathalie Boddaert, Ilaria Musante, Serena Tamburro, Simona Baldassari, Michele Iacomino, Paolo Scudieri, Maria T Acosta, David R Adams, Raquel L Alvarez, Justin Alvey, Aimee Allworth, Ashley Andrews, Euan A Ashley, Ben Afzali, Carlos A Bacino, Guney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Pinar Bayrak-Toydemir, Anita Beck, Alan H Beggs, Edward Behrens, Gill Bejerano, Hugo J Bellen, Jimmy Bennett, Jonathan A Bernstein, Gerard T Berry, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Devon Bonner, Lorenzo Botto, Lauren C Briere, Gabrielle Brown, Elizabeth A Burke, Lindsay C Burrage, Manish J Butte, Peter Byers, William E Byrd, John Carey, Olveen Carrasquillo, Thomas Cassini, Ta Chen Peter Chang, Sirisak Chanprasert, HsiaoTuan Chao, Ivan Chinn, Gary D Clark, Terra R Coakley, Laurel A Cobban, Joy D Cogan, Matthew Coggins, F Sessions Cole, Heather A Colley, Heidi Cope, Rosario Corona, William J Craigen, Andrew B Crouse, Michael Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G Dayal, Margaret Delgado, Esteban C Dell'Angelica, Katrina Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L Doss, Emilie D Douine, Dawn Earl, David J Eckstein, Lisa T Emrick, Christine M Eng, Marni Falk, Elizabeth L Fieg, Paul G Fisher, Brent L Fogel, Irman Forghani, Jiayu Fu, William A Gahl, Ian Glass, Page C Goddard, Rena A Godfrey, Alana Grajewski, Andrea Gropman, Meghan C Halley, Rizwan Hamid, Neal Hanchard, Kelly Hassey, Nichole Hayes, Frances High, Anne Hing, Fuki M Hisama, Ingrid A Holm, Jason Hom, Martha Horike-Pyne, Alden Huang, Yan Huang, Sarah Hutchison, Wendy Introne, Rosario Isasi, Kosuke Izumi, Gail P Jarvik, Jeffrey Jarvik, Suman Jayadev, Orpa Jean-Marie, Vaidehi Jobanputra, Emerald Kaitryn, Shamika Ketkar, Dana Kiley, Gonench Kilich, Shilpa N Kobren, Isaac S Kohane, Jennefer N Kohler, Susan Korrick, Deborah Krakow, Donna M Krasnewich, Elijah Kravets, Seema R Lalani, Byron Lam, Christina Lam, Brendan C Lanpher, Ian R Lanza, Kimberly LeBlanc, Brendan H Lee, Roy Levitt, Richard A Lewis, Pengfei Liu, Xue Zhong Liu, Nicola Longo, Sandra K Loo, Joseph Loscalzo, Richard L Maas: De novo variants in DENND5B cause a neurodevelopmental disorder. The American Journal of Human Genetics February 2024.

Nisha Bhattarai, Ludovica Montanucci, Tobias Bruenger, Eduardo Perez-Palma, William Martin, Iris N Smith, Feixiong Cheng, Charis Eng, Ingo Helbig, Rikkie S Moller, Andreas Brunklaus, Stephanie Schorge, Dennis Lal: Molecular dynamics simulations reveal molecular mechanisms for the gain and loss of function effects of four SCN2A variants. Biophysical Journal February 2024.

Lauren Jeffries, Emily K Mis, Kirsty McWalter, Sandra Donkervoort, Nina N Brodsky, Jean-Marie Carpier, Weizhen Ji, Cristian Ionita, Bhaskar Roy, Jon S Morrow, Armine Darbinyan, Krishna Iyer, Ritu B Aul, Siddharth Banka, Katherine R Chao, Laura Cobbold, Stacey Cohen, Helena M Custodio, Margaret Drummond-Borg, Frances Elmslie, Erika Finanger, Bryan E Hainline, Ingo Helbig, Stacy Hewson, Ying Hu, Adam Jackson, Dragana Josifova, Monica Konstantino, Meganne E Leach, Bryan Mak, David McCormick, Elisabeth McGee, Stanley Nelson, Joanne Nguyen, Kimberly Nugent, Lucy Ortega, Howard P Goodkin, Elizabeth Roeder, Sani Roy, Katie Sapp, Dimah Saade, Sanjay M Sisodiya, Karen Stals, Shelley Towner, William Wilson, Silvia Borras, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper-Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai-Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury-Ecob, Andrew M Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Steve Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo-Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma Baple, Júlia Baptista, Carole Brewer, Bruce Castle, Emma Kivuva, Martina Owens, Julia Rankin, Charles Shaw-Smith, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Therese Bradley, Rosemarie Davidson, Carol Gardiner, Shelagh Joss, Esther Kinning, Cheryl Longman, Ruth McGowan, Victoria Murday, Daniela Pilz, Edward Tobias, Margo Whiteford, Nicola Williams, Angela Barnicoat, Emma Clement, Francesca Faravelli, Jane Hurst, Lucy Jenkins, Wendy Jones, VK Ajith Kumar: Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. Genetics in Medicine February 2024.

Jerome Clatot, Christopher B Currin, Qiansheng Liang, Tanadet Pipatpolkai, Shavonne L Massey, Ingo Helbig, Lucie Delemotte, Tim P Vogels, Manuel Covarrubias, Ethan M Goldberg: A structurally precise mechanism links an epilepsy-associated KCNC2 potassium channel mutation to interneuron dysfunction. Proceedings of the National Academy of Sciences 121(3): e2307776121, January 2024.

Kim M Thalwitzer, Julie Xian, Danielle de Campo, Shridhar Parthasarathy, Jan Magielski, Katie R Sullivan, James Goss, Charlene Son Rigby, Michael Boland, Ben Prosser, Sarah M Ruggiero, Steffen Syrbe, Ingo Helbig: Early life seizures and epileptic spasms in STXBP1‐related disorders. Epilepsia January 2024.

Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI Jr, Ogishima S, Olson D, Ortiz A, Pachajoa H, Perez de Nanclares G, Peters A, Putman T, Rapp CK, Rath A, Reese J, Rekerle L, Roberts AM, Roy S, Sanders SJ, Schuetz C, Schulte EC, Schulze TG, Schwarz M, Scott K, Seelow D, Seitz B, Shen Y, Similuk MN, Simon ES, Singh B, Smedley D, Smith CL, Smolinsky JT, Sperry S, Stafford E, Stefancsik R, Steinhaus R, Strawbridge R, Sundaramurthi JC, Talapova P, Tenorio Castano JA, Tesner P, Thomas RH, Thurm A, Turnovec M, van Gijn ME, Vasilevsky NA, Vlčková M, Walden A, Wang K, Wapner R, Ware JS, Wiafe AA, Wiafe SA, Wiggins LD, Williams AE, Wu C, Wyrwoll MJ, Xiong H, Yalin N, Yamamoto Y, Yatham LN, Yocum AK, Young AH, Yüksel Z, Zandi PP, Zankl A, Zarante I, Zvolský M, Toro S, Carmody LC, Harris NL, Munoz-Torres MC, Danis D, Mungall CJ, Köhler S, Haendel MA, Robinson PN. : The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic Acids Res. January 2024.

Dong Li, Qin Wang, Allan Bayat, Mark R Battig, Yijing Zhou, Daniëlle GM Bosch, Gijs van Haaften, Leslie Granger, Andrea K Petersen, Luis A Pérez-Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hancarova, Sarka Bendova, Martin Schwarz, Radka Kremlíková Pourová, Zdenek Sedlacek, Beth A Keena, Michael E March, Cuiping Hou, Nora O'Connor, Elizabeth J Bhoj, Margaret H Harr, Gabrielle Lemire, Kym M Boycott, Meghan C Towne, Megan Li, Mark Tarnopolsky, Lauren Brady, Michael J Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith S Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina Cooper, Timothy J Maarup, Melissa Byler, Robert Roger Lebel, Tugce B Balci, Raymond J Louie, Michael J Lyons, Jessica Douglas, Catherine B Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M Maas, Mahdi M Motazacker, Julian A Martinez-Agosto, Ahna M Rabani, Elizabeth M McCormick, Marni Falk, Sarah M Ruggiero, Ingo Helbig, Rikke S Møller, Lino Tessarollo, Francesco Tomassoni-Ardori, Mary Ellen Palko, Tzung-Chien Hsieh, Peter M Krawitz, Mythily Ganapathi, Bruce D Gelb, Vaidehi Jobanputra, Ashley Wilson, John Greally, Sébastien Jacquemont, Khadijé Jizi, Bruel Ange-Line, Chloé Quelin, Vinod K Misra, Erika Chick, Corrado Romano, Donatella Greco, Alessia Arena, Manuela Morleo, Vincenzo Nigro, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Ryoji Taira, Katsuya Tashiro, Yasunari Sakai, Gökhan Yigit, Bernd Wollnik, Michael Wagner, Barbara Kutsche, Anna CE Hurst, Michelle L Thompson, Ryan J Schmidt, Linda M Randolph, Rebecca C Spillmann, Vandana Shashi, Edward J Higginbotham, Dawn Cordeiro, Amanda Carnevale, Gregory Costain, Tayyaba Khan, Benoît Funalot, Frederic Tran Mau-Them, Luis Fernandez Garcia Moya, Sixto García-Miñaúr, Matthew Osmond, Lauren Chad, Nada Quercia, Diana Carrasco, Chumei Li, Amarilis Sanchez-Valle, Meghan Kelley, Mathilde Nizon, Brynjar O Jensson, Patrick Sulem, Kari Stefansson, Svetlana Gorokhova, Tiffany Busa, Marlène Rio, Hamza Hadj Abdallah, Marion Lesieur-Sebellin, Jeanne Amiel, Véronique Pingault, Sandra Mercier, Marie Vincent, Christophe Philippe, Clemence Fatus-Fauconnier, Kathryn Friend, Rebecca K Halligan, Sunita Biswas, Jane MR Rosser, Cheryl Shoubridge, Mark A Corbett, Christopher Barnett, Jozef Gecz, Kathleen A Leppig, Anne Slavotinek, Carlo Marcelis, Rolph Pfundt, Bert BA de Vries, Marjon A van Slegtenhorst, Alice S Brooks, Benjamin Cogne, Thomas Rambaud, Zeynep Tümer, Elaine H Zackai, Naiara Akizu, Yuanquan Song, and Hakon Hakonarson: Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. The Journal of Clinical Investigation 134(1): e171235, January 2024.

Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, Tiziana Pisano, Laloe Monteiro, Noémie Penaud, Christian M Korff, Joel Fluss, Carla Marini, Elisabetta Cesaroni, Blanca Mercedes Alvarez, Damien Sanlaville, Nicolas Chatron, Alexis A Arzimanoglou, Audrey Labalme, Vishnu A Cuddapah, Sarah M Ruggiero, Francois Lecoquierre, Gael Nicolas, Guerrot Anne Marie, Axel Lebas, Herve O Testard, Katherine L Helbig, Anna Ruiz, Adeline Ngoh, Manju A Kurian, Kimberley Reid, Robert Spaull, Pascal Joset, Georgia Ramantani, Katharina Steindl, Martin Krenn, Lucia Gerstl, Silvia Vieker, Dana Craiu, Manuela Pendziwiat, Chad Haldeman-Englert, Ilya Kanivets, Irina Romanova, Deepa S Rajan, Jill A Rosenfeld, Margaret Au, Katheryn Grand, M John Jr, Arnaud Isapof, Nathalie Villeneuve, Thomas Smol, Roseline Caumes, Pia Zacher, Sonja Neuser, Sigrid Tinschert, Konrad Platzer, Tobias Bartolomaeus, Ines Mohnke, Maximilian Radtke, Rami Abou Jamra, Ingo Helbig, Floortje E Jansen, Klaas Koop, Gabrielle Rudolf, Sebastien Küry, Julien Courchet, Renzo Guerrini, Gaetan Lesca: Molecular and Phenotypic Characterization of the RORB-Related Disorder. Neurology January 2024.

Julie Xian, Kim Marie Thalwitzer, Jillian McKee, Katie Rose Sullivan, Elise Brimble, Eryn Fitch, Jonathan Toib, Michael C Kaufman, Danielle deCampo, Kristin Cunningham, Samuel R Pierce, James Goss, Charlene Son Rigby, Steffen Syrbe, Michael Boland, Benjamin Prosser, Nasha Fitter, Sarah M Ruggiero, Ingo Helbig: Delineating clinical and developmental outcomes in STXBP1-related disorders. Brain 146, December 2023.