Katherine L. Helbig, MS, LCGC

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Katherine L. Helbig, MS, LCGC, is a senior genetic counselor in the Division of Neurology at Children's Hospital of Philadelphia and Co-Director of the Epilepsy Neurogenetics Initiative.

Areas of Expertise: Genetic epilepsies of infancy and childhood, Ion channelopathies, Neurodevelopmental disorders, Neurogenetics
Locations: Main Campus; Buerger Center for Advanced Pediatric Care
Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

Background

Katherine Helbig, MS, LCGC, is a senior genetic counselor in the Division of Neurology at Children’s Hospital of Philadelphia and Co-Director of the Epilepsy Neurogenetics Initiative. She provides genetic counseling to families in the Epilepsy Neurogenetics Clinic.

Ms. Helbig has a research interest in identifying new genetic causes of infantile and childhood onset epilepsies and understanding how genetic variation leads to seizure disorders. She has led gene-discovery efforts in the epilepsies and related neurological disorders and has particular expertise in genomic analysis and variant interpretation in the epilepsies. An additional area of clinical and research interest is improving access to genetic services for people with epilepsy and understanding how genetics can improve health outcomes.

She is an active member of the epilepsy genetics research community, including the Epi25 Collaborative and the EuroEPINOMICS Consortium, and is a founding member and co-chair of EpiGC, the consortium of epilepsy genetic counselors.

Education and Training

Board Certification

Genetic Counseling

Undergraduate Degree

BA in Biological Sciences, Specialization in Genetics and Development - Cornell University, Ithaca, NY

Graduate Degree

MS in Genetic Counseling - Arcadia University, Glenside, PA

Titles and Academic Titles

Genetic Counseling Program Manager

Co-Director, Epilepsy Neurogenetics Initiative

Departments and Services

Publications

Papers

2020

Zaman T, Helbig KL ,Clatot J, Thompson CH, Kang SK, Stouffs K, Jansen AE, Verstraete L, Jacquinet A, Parrini E, Guerrini R, Fujiwara Y, Miyatake S, Ben-Zeev B, Bassan H, Reish O, Marom D, Hauser N, Vu TA, Ackermann S, Spencer CE, Lippa N, Srinivasan S, Charzewska A, Hoffman-Zacharska D, Fitzpatrick D, Harrison V, Vasudevan P, Joss S, Pilz DT, Fawcett KA, Helbig I, Matsumoto N, Kearney JA, Fry AE, Goldberg EM. SCN3A-related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation. Ann Neurol. 2020 Jun 8. doi: 10.1002/ana.25809. Online ahead of print. *Equal contribution

Carvill GL,* Helbig KL,* Myers CT, Scala M, Huether R, Lewis S, Kruer TN, Guida BS, Bakhtiari S, Sebe J, Tang S, Stickney H, Oktay SU, Bhandiwad AA, Ramsey K, Narayanan V, Feyma T, Rohena LO, Accogli A, Severino M, Hollingsworth G, Gill D, Depienne C, Nava C, Sadleir LG, Caruso PA, Lin AE, Jansen FE, Koeleman B, Brilstra E, Willemsen MH, Kleefstra T, Sa J, Mathieu ML, Perrin L, Lesca G, Striano P, Casari G, Scheffer IE, Raible D, Sattlegger E, Capra V, Padilla-Lopez S, Mefford HC, Kruer MC. Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy. Hum Mutat. 2020 Jul;41(7):1263-1279. *Equal contribution

2019

Epi25 Collaborative. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals. Am J Hum Genet. 2019 Aug 1;105(2):267-282.

Helbig I, Lopez-Hernandez T, Shor O, Galer P, Ganesan S, Pendziwiat M, Rademacher A, Ellis CA, Hümpfer N, Schwarz N, Seiffert S, Peeden J, Shen J, Štěrbová K, Hammer TB, Møller RS, Shinde DN, Tang S, Smith L, Poduri A, Krause R, Benninger F, Helbig KL,* Haucke V,* Weber YG*; EuroEPINOMICS-RES Consortium; GRIN Consortium. A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.Am J Hum Genet. 2019 Jun 6;104(6):1060-1072. *Equal contribution

Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J. Clinical spectrum of STX1B-related epileptic disorders. Neurology. 2019 Mar 12;92(11):e1238-e1249.

Liu Y, Schubert J, Sonnenberg L, Helbig KL, Hoei-Hansen CE, Koko M, Rannap M, Lauxmann S, Huq M, Schneider MC, Johannesen KM, Kurlemann G, Gardella E, Becker F, Weber YG, Benda J, Møller RS, Lerche H. Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability.Brain. 2019 Feb 1;142(2):376-390.

2018

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 NovoPathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2018;103:666-78. *Equal contribution

Helbig I, Riggs ER, Barry CA, Klein KM, Dyment D, Thaxton C, Sadikovic B, Sands TT, Wagnon JL, Liaquat K, Cilio MR, Mirzaa G, Park K, Axeen E, Butler E, Bardakjian TM, Striano P, Poduri A, Siegert RK, Grant AR, Helbig KL, Mefford HC. The ClinGen Epilepsy Gene Curation Expert Panel: Bridging the divide between clinical domain knowledge and formal gene curation criteria. Hum Mutat.2018;39:1476-84.

Heyne HO, Singh T, Stamberger H, Abou Jamra R, Caglayan H, Craiu D, De Jonghe P, Guerrini R,Helbig KL, Koeleman BPC, Kosmicki JA, Linnankivi T, May P, Muhle H, Møller RS, Neubauer BA, Palotie A, Pendziwiat M, Striano P, Tang S, Wu S; EuroEPINOMICS RES Consortium, Poduri A, Weber YG, Weckhuysen S, Sisodiya SM, Daly MJ, Helbig I, Lal D, Lemke JR. De novo variants in neurodevelopmental disorders with epilepsy. Nat Genet. 2018;50:1048-53. 

Sheidley BR, Smith LA, Helbig KLGenetics of Epilepsy in the Era of Precision Medicine: Implications for Testing, Treatment, and Genetic Counseling. Current Genet Med Rep. 2018;6:73-82.

2017

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;89:385-94. *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;92:430-3.

2016

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 ataxiaAnn Neurol. 2016;80:638-42.

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;18:898-905.

Posters and Presentations

Invited Lectures

2020

Helbig KL. “Precision treatment approaches for genetic epilepsies: Where we are and where we’re going” ACMG Annual Clinical Genetics Meeting, May 2020.

2019

“SCN2A: Deciphering the Genetics.” FamilieSCN2A Foundation Family and Professional Conference, Aug 2019, Seattle, WA

“STXBP1: What Does My Variant Mean?” STXBP1 Investigator & Family Meeting, Jun 2019, Philadelphia, PA

“Accessing Genetic Testing for Lennox-Gastaut Syndrome.” International Family and Professional Conference on Lennox-Gastaut Syndrome, May 2019, Seattle, WA

2018

“SLC6A1-Related Disorders: Clinical Aspects.” SLC6A1 Connect Roundtable, Nov 2018, New Orleans, LA

“Introduction to Phenotyping of Neurodevelopmental Disorders.” EMBO Practical Course: Phenotyping Neurological Syndromes for Systems Genetics, Oct 2018, Luxembourg

2017

“Making Sense of Genetic Data in Epilepsy - Consensus and Controversy in 2017.” Genetics SIG at the American Epilepsy Society Annual Meeting, Dec 2017, Washington, DC

“Update on Genetics and Precision Medicine in Lennox-Gastaut Syndrome.” International Family and Professional Conference on Lennox-Gastaut Syndrome, Nov 2017, Orlando, FL

“Epilepsy Genetics: An Emerging Model for Precision Medicine.” Educational Breakout Session, National Society of Genetic Counselors (NSGC) Annual Education Conference, Sep 2017, Columbus, OH

“SCN2A: What Does My Variant Mean?” FamilieSCN2A Foundation Family and Professional Conference, Jul 2017, Wilmington, DE

2016

"Whole exome sequencing in the epilepsies: the developing diagnostic exome signature of epilepsy genes over a fiveyear period.” Platform Presentation #66, European Congress on Epileptology, Sep 2016, Prague, Czech Republic

“De novo Mutations of KIAA2022 in Females Cause Epileptic Encephalopathy.” Platform Presentation #43, American College of Medical Genetics and Genomics (ACMG) Annual Meeting, Mar 2016, Tampa, FL

2015

“A recurrent mutation in KCNA2 in complicated autosomal dominant spastic paraplegia: An expansion of the channelopathy spectrum and a novel disease mechanism.” Platform Presentation #54, American Society of Human Genetics (ASHG) Annual Meeting, Oct 2015, Baltimore, MD

Awards and Honors

2020, Jane Engelberg Memorial Fellowship Full Member Award

2019, Roberts Collaborative for Genetics and Individual Medicine Rapid Grant Award

2008, Arcadia University Ellington Beavers Fund for Intellectual Inquiry Student Award

1999 – 2003, Cornell University Presidential Research Scholar

Leadership and Memberships

Memberships in Professional Organizations

  • GRIN-related disorders Variant Curation Expert Panel
  • FamilieSCN2A Medical Advisory Board Member
  • American Epilepsy Society
  • American Society of Human Genetics
  • National Society of Genetic Counselors
  • ClinGen Epilepsy Gene Curation Expert Panel
  • International League Against Epilepsy (ILAE) Task Force on Clinical Genetic Testing in the Epilepsies
  • SLC6A1 Connect Scientific Advisory Board Member