Katherine L. Helbig, MS, LCGC

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

Papers

2018

Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, et al. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2018 Oct 10. pii: S0002-9297(18)30317-3. doi: 10.1016/j.ajhg.2018.09.006. [Epub ahead of print]

2017

Martin S, Chamberlin A, Shinde DN, Hempel M, Strom TM, Schreiber A, Johannsen J, Ousager LB, Larsen MJ, Hansen LK, Fatemi A, Cohen JS, Lemke J, Sørensen KP, Helbig KL, Lessel D, Abou Jamra R. De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait  Abnormalities. Am J Hum Genet. 2017;101(6):1013-20.

Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO52; Deciphering Developmental Disorders Study, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S5, Elgersma Y, Mercier S. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017;101(5):768-88.

Lessel D, Schob C, Küry S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Cogné B, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J; DDD study, Schieving JH, Claasen A, Huentelman M, Narayanan V, Ramsey K; C4RCD Research Group, Brunner HG, Elpeleg O, Mercier S, Bézieau S, Kubisch C, Kleefstra T, Kindler S, Lupski JR, Kreienkamp HJ. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2017;101(5):716-24.

Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Katherine L. Helbig, MS, LCGC 3 Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Møller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR, Kutsche K, Guerrini R. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain. 2017;140(9):2322-2336.

Peng Y, Shinde DN, Valencia CA, Mo JS, Rosenfeld J, Truitt Cho M, Chamberlin A, Li Z, Liu J, Gui B, Brockhage R, Basinger A, Alvarez-Leon B, Heydemann P, Magoulas PL, Lewis AM, Scaglia F, Gril S, Chong SC, Bower M, Monaghan KG, Willaert R, Plona MR, Dineen R, Milan F, Hoganson G, Powis Z, Helbig KL, Keller-Ramey J, Harris B, Anderson LC, Green T, Sukoff Rizzo SJ, Kaylor J, Chen J, Guan MX, Sellars E, Sparagana SP, Gibson JB, Reinholdt LG, Tang S, Huang T. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. Hum Mol Genet. 2017;26(24):4937-4950.

Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL. De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. Am J Hum Genet. 2017;101(4):516-24.

Zhang YH, Burgess R, Malone JP, Glubb GC, Helbig KL, Vadlamudi L, Kivity S, Afawi Z, Bleasel A, Grattan-Smith P, Grinton BE, Bellows ST, Vears DF, Damiano JA, Goldberg-Stern H, Korczyn AD, Dibbens LM, Ruzzo EK, Hildebrand MS, Berkovic SF, Scheffer IE. Genetic epilepsy with febrile seizures plus: Refining the spectrum. Neurology. 2017;89(12):1210-9.

de Lange IM, Rump P, Neuteboom RF, Augustijn PB, Hodges K, Kistemaker AI, Brouwer OF, Mancini GMS, Newman HA, Vos YJ, Helbig KL, Peeters-Scholte C, Kriek M, Knoers NV, Lindhout D, Koeleman BPC, van Kempen MJA, Brilstra EH. Male patients affected by mosaic PCDH19 mutations: five new cases. Neurogenetics. 2017;18(3):147-153.

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, Charuta CN, Kolbe DL, Hollingsworth G, Neubauer BA, Muhle H, Stephani U, Epi4K Consortium, EuroEPINOMICS-RES NLES working group, Scheffer IE, Pena SD, Sisodiya SM, Helbig I. DNM1 encephalopathy: a new disease of vesicle fission. Neurology. 2017;89(4):385-394. *equal contribution

Mitter D, Pringsheim M, Kaulisch M, Plümacher KS, Schröder S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, Büttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, Höft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Rieß A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K. FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants. Genet Med. 2017 Jun 29. [Epub ahead of print]

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(4):430-3. 

Weber YG, Biskup S, Helbig KL, von Spiczak S, Lerche H. The role of genetic testing in epilepsy diagnosis and management. Expert Rev Mol Diagn. 2017;17(8):739-50.

Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J Med Genet. 2017;54(7):460-70. Katherine L. Helbig, MS, LCGC 4

Wolff M, Johannesen KM, Hedrich UB, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain. 2017;140(5):1316-36.

Smith ED, Radtke K, Rossi M, Shinde DN, Darabi S, El-Khechen D, Powis Z, Helbig K, Waller K, Grange DK, Tang S, Farwell Hagman KD. Classifications of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017;38(5):600-8.

Farwell Hagman KD, Shinde DN, Mroske C, Smith E, Radtke K, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Alcaraz WA, Helbig KL, Sajan SA, Rossi M, Lu HM, Huether R, Li S, Wu S, Nunes ME, Tang S. Novel genetic etiology (NGE) criteria for clinical reporting: Diagnostic exome sequencing identifies a candidate novel genetic etiology among 8% of patients with undiagnosed diseases. Genet Med. 2017;19(2):224-35.

Amos JS, Huang L, Thevenon J, Kariminedjad A, Beaulieu CL, Masurel-Paulet A, Najmabadi H, Fattahi Z, Beheshtian M, Tonekaboni SH, Tang S, Helbig KL, Alcaraz W, Rivière JB, Faivre L, Innes AM, Lebel RR, Boycott KM. Autosomal recessive mutations in THOC6 cause intellectual disability: Syndrome delineation requiring forward and reverse phenotyping. Clin Genet. 2017;91(1):92-9.

2016

Helbig KL, Hedrich UBS, 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; 80(4):638-42.

Johannesen K, Marini C, Pfeffer S, Møller RS, Dorn T, Niturad C, Gardella E, Weber Y, Søndergård M, Hjalgrim H, Nikanorova M, Becker F, Larsen LH, Dahl HA, Maier O, Mei D, Biskup S, Klein KM, Reif PS, Rosenow F, Elias AF, Hudson C, Helbig KL, Schubert-Bast S, Scordo MR, Craiu D, Djémié T, Hoffman-Zacharska D, Caglayan H, Helbig I, Serratosa J, Striano P, De Jonghe P, Weckhuysen S, Suls A, Muru K, Talvik I, Talvik T, Muhle H, Borggraefe I, Rost I, Guerrini R, Lerche H, Lemke JR, Rubboli G, Maljevic S. Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. Neurology. 2016;87(11):1140-51.

Hardies K, Cai Y, Jardel C, Jansen AC, Mian C, May P, Djémié T, Hachon Le Camus C, Keymolen K, Deconinck T, Bhambhani V, Long C, Sajan SA, Helbig KL, AR working group of the EuroEPINOMICS RES Consortium, Suls A, Balling R, Helbig I, De Jonghe P, Depienne C, De Camilli P, Weckhuysen S. Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. Brain. 2016;139(Pt 9):2420-30.

de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, Van Paeschen W, Striano P, van Gassen K, van Kempen M, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Abi Warde MT, De Saint Martin A, Chelly J, EuroEPINOMICS-RES MAE working group, van’t Slot R, Van Maldergem L, Brilstra EH, Koeleman BPC. De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy. J Med Genet. 2016; 53(12):850-8.

Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M, Fluss J, de Bellescize J, Scholly J, Møller RS, Craiu D, Tommerup N, Valenti-Hirsch MP, Schluth-Bolard C, Sloan-Béna F, Helbig KL, Weckhuysen S, Edery P, Coulbaut S, Abbas M, Scheffer IE, Tang S, Myers CT, Stamberger H, Carvill GL, Shinde DN, Mefford HC, Neagu E, Huether R, Lu HM, Dica A, Cohen JS, Iliescu C, Pomeran C, Rubenstein J, Helbig I, Sanlaville D, Hirsch E, Szepetowski P. Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy. Eur J Hum Genet. 2016;24(12):1761-70.

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(9):898-905. Katherine L. Helbig, MS, LCGC 5

Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CRJ, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJV, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BPC, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleri D, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S. Delineating the GRIN1 phenotypic spectrum – a distinct genetic NMDA receptor encephalopathy. Neurology. 2016;86(23):2171-8.

Butler SM, Helbig KL, Alcaraz W, Seaver LH, Hsieh DT, Rohena L. Three cases of Troyer Syndrome in two families of Filipino descent. Am J Med Genet Part A. 2016;170(7):1780-5.

Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destree A, Dilena R, Erasmus CE, Fannemel M, Fjaer R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ, Lederer D, Lodi M, Maier O, Merkenschlager A, Michelberger A, Minetti C, Muhle H, Phalin J, Ramsay K, Romeo A, Schallner J, Schanze I, Shinawi M, Sleegers K, Sterbova K, Syrbe S, Traverso M, Tzschach A, Uldall P, Van Coster R, Verhelst H, Viri M, Winter S, Wolff M, Zenker M, Zoccante L, De Jonghe P, Helbig I, Striano P, Lemke JR, Møller RS, Weckhuysen S. STXBP1 encephalopathy: a neurodevelopmental disorder including epilepsy. Neurology. 2016;86(10):954-62.

Afawi Z, Oliver KL, Kivity S, Mazarib A, Blatt I, Neufeld MY, Helbig KL, Goldberg-Stern H, Misk AJ, Straussberg R, Walid S, Mahnajnah M, Lerman-Sagie T, Ben-Zeev B, Kahane E, Masalha R, Kramer U, Ekstein D, Shorer Z, Wallace RH, Mangelsdorf M, MacPherson JN, Carvill GL, Mefford HC, Jackson GD, Scheffer IE, Bahlo M, Gecz J, Heron SE, Corbett M, Mulley JC, Dibbens LM, Korczyn AD, Berkovic SF. Multiplex Families with Epilepsy: Success of Clinical and Molecular Genetic Characterization. Neurology. 2016;86(8):713-22.

2015

DeSanto C, D'Aco K, Araujo GC, Shannon N, Study D, Vernon H, Rahrig A, Monaghan KG, Niu Z, Vitazka P, Dodd J, Tang S, Manwaring L,Martir-Negron A, Schnur RE, Juusola J, Schroeder A, Pan V, Helbig KL, Friedman B, Shinawi M. WAC loss-of-function mutations cause a recognisable syndrome characterized by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. J Med Genet. 2015; 52(11):754-61.

2012

Dibbens LM, Hodgson BL, Helbig KL, Oliver KL, Mulley JC, Berkovic SF, Scheffer IE. Rare protein sequence variation in SV2A gene does not affect response to levetiracetam. Epilepsy Res. 2012;101(3):277-9.

Helbig KL, Nothnagel M, Hampe J, Balschun T, Nikolaus S, Schreiber S, Franke A, Nöthlings U. A case-only study of gene-environment interaction between genetic susceptibility variants in NOD2 and cigarette smoking in Crohn's disease aetiology. BMC Med Genet. 2012;13:14.

2010

Helbig KL, Bernhardt BA, Conway LJ, Valverde KD, Helbig I, Sperling MR. Genetic risk perception and reproductive decision-making among people with epilepsy. Epilepsia. 2010;51(9):1874-7.

2009

Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuß-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nürnberg P, Romano C, Malafosse A, Koeleman BPC, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet. 2009;41(2):160-2.

2007

Gomez-Abad C, Afawi Z, Korczyn AD, Misk A, Shalev SA, Spiegel R, Lerman-Sagie T, Lev D, Kron KL, Gomez-Garre P, Serratosa JM, Berkovic SF. Founder effect with variable age of onset in Arab families with Lafora Disease and EPM2A mutation. Epilepsia. 2007;48(5):1011-4. Katherine L. Helbig, MS, LCGC 6

2006

Hempelmann A, Taylor KP, Heils A, Lorenz S, Prud’Homme JF, Nabbout R, Dulac O, Rudolf G, Zara F, Bianchi A, Robinson R, Gardiner RM, Covanis A, Lindhout D, Stephani U, Elger CE, Weber YG, Lerche H, Nürnberg P, Kron KL, Scheffer IE, Mulley JC, Berkovic SF, Sander T. Exploration of the Genetic Architecture of Idiopathic Generalized Epilepsies. Epilepsia. 2006;47(10):1682-90.

Derry CP, Davey M, Johns M, Kron K, Glencross D, Marini C, Scheffer IE, Berkovic SF. Distinguishing sleep disorders from seizures: diagnosing bumps in the night. Arch Neurol. 2006; 63(5):705-9.

Posters and Presentations

2017

Helbig KL. “Making Sense of Genetic Data in Epilepsy - Consensus and Controversy in 2017.” Genetics SIG at the American Epilepsy Society Annual Meeting, December 2017, Washington, DC “Update on Genetics and Precision Medicine in Lennox-Gastaut Syndrome.” International Family and Professional Conference on Lennox-Gastaut Syndrome, November 2017, Orlando, FL

Helbig KL. “Epilepsy Genetics: An Emerging Model for Precision Medicine.” Educational Breakout Session, NSGC 36th Annual Education Conference, September 2017, Columbus, OH “SCN2A: What Does My Variant Mean?” FamilieSCN2A Foundation Family and Professional Conference, July 2017, Wilmington, DE

2016

Helbig KL. "Whole exome sequencing in the epilepsies: the developing diagnostic exome signature of epilepsy genes over a fiveyear period.” Platform Presentation #66 at the 12th European Congress on Epileptology, September 2016, Prague, Czech Republic

Helbig KL. “De novo mutations in EEF1A2 lead to an epileptic-dyskinetic encephalopathy.” 2016 Annual Philadelphia Genetics Meeting. June 2016, Philadelphia, PA

Helbig KL. "De novo Mutations of KIAA2022 in Females Cause Epileptic Encephalopathy.” Platform Presentation #43 at the 2016 ACMG Annual Meeting, March 2016, Tampa, FL

2015

Helbig KL. “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 at the 2015 ASHG Annual Meeting, October 2015, Baltimore, MD

Helbig KL. “CHMP1A in pontocerebellar hypoplasia type 8: a novel family suggests a founder effect in the Puerto Rican population.” 2015 Annual Philadelphia Genetics Meeting. May 2015, Philadelphia, PA