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helbigk [at]
Location - People View
10th Fl

3501 Civic Center Blvd
Philadelphia, PA 19104
United States

Katherine L. Helbig, MS, LCGC
Katherine L. Helbig
Licensed Genetic Counselor; Co-Director, Epilepsy NeuroGenetics Initiative

Katherine Helbig’s research focuses on identifying new genetic causes of epilepsy and understanding how genetic variation leads to seizures. An additional research focus is improving access to genetic services for people with epilepsy and investigating the impact of genetics on health outcomes.



Katherine Helbig is a genetic counselor in the Division of Neurology at Children’s Hospital of Philadelphia and Co-Director of the Epilepsy NeuroGenetics Initiative. 

Her research interests include identifying new genetic causes of infantile- and childhood-onset epilepsies and understanding how genetic variation leads to seizure disorders. Through her membership in international research consortia including the Epi25 Collaborative and the EuroEPINOMICS Consortium, she has spearheaded gene-discovery efforts in the epilepsies and related neurological disorders and has been involved in the discovery and characterization of over 30 genetic neurological syndromes, including the characterization of pathogenic variants in CACNA1E, encoding the brain-expressed voltage-gated calcium channel CaV2.3, as a cause of a severe early-onset epileptic encephalopathy, and the discovery of a recurrent pathogenic variant in KCNA2, encoding the voltage-gated potassium channel KV1.2, as a novel disease mechanism for Hereditary Spastic Paraplegia.

Helbig has particular expertise in genomic analysis and variant interpretation in the epilepsies. She is a member of the NHGRI-funded ClinGen Epilepsy Gene Curation Expert Panel, which defines the clinical relevance of genes and variants associated with epilepsy. She serves as a variant curation specialist for the NINDS-Funded Channelopathy-Associated Research Center, prioritizing variants in brain-expressed ion channel encoding genes for further characterization in functional model systems.

An additional area of clinical and research interest is improving access to genetic services for people with epilepsy and understanding how the provision of genetic services can improve health outcomes.

Education and Training

BA, Cornell University (Biological Sciences), 2003

MS, Arcadia University (Genetic Counseling), 2009

Titles and Academic Titles

Licensed Genetic Counselor

Co-Director, Epilepsy NeuroGenetics Initiative

Professional Memberships

American Epilepsy Society, 2007-

American Society of Human Genetics, 2008-

National Society of Genetic Counselors, 2007-

Professional Awards

Cornell University Presidential Research Scholar, 1999-2003

Arcadia University Ellington Beavers Fund for Intellectual Inquiry, 2008

NSGC Jane Engelberg Memorial Fellowship, 2019

Publication Highlights

Helbig KL*, Lauerer RJ*, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xin Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2018 Jan; 103:666-78. *Equal contribution
Helbig KL, Mroske C, Moorthy D, Sajan SA, Velinov M. Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability. Clin Genet. 2017 Jan; 92:430-3
von Spiczak S*, Helbig KL*, Shinde DN, Huether R, Pendziwiat M, Lourenço C, Nunes ME, Sarco DP, Kaplan RA, Dlugos DJ, Kirsch H, Slavotinek A, Cilio MR, Cervenka MC, Cohen JS, McClellan R, Fatemi A, Yuen A, Sagawa Y, Littlejohn R, McLean SD, Hernandez-Hernandez L, Maher B, Møller RS, Palmer E, Lawson JA, Campbell CA, Joshi CN, Kolbe DL, Hollingsworth G, Neubauer BA, Muhle H, Stephani U, Scheffer IE, Pena SDJ, Sisodiya SM, Helbig I; Epi4K Consortium; EuroEPINOMICS-RES NLES Working Group. DNM1 encephalopathy: A new disease of vesicle fission. Neurology. 2017 Jan; 89:385-94. *Equal contribution
Helbig KL, Farwell Hagman KD, Shinde DN, Mroske C, Powis Z, Li S, Tang S, Helbig I. Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genet Med. 2016 Jan; 18:898-905
Helbig KL, Hedrich UB, Shinde DN, Krey I, Teichmann AC, Hentschel J, Schubert J, Chamberlin AC, Huether R, Lu HM, Alcaraz WA, Tang S, Jungbluth C, Dugan SL, Vainionpää L, Karle KN, Synofzik M, Schöls L, Schüle R, Lehesjoki AE, Helbig I, Lerche H, Lemke JR. A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. Ann Neurol. 2016 Jan; 80:638-42