Northwestern University Feinberg School of Medicine

Gemma Carvill Lab

Recent Publications

Learn more about the work that we do in the Gemma Carvill Laboratory through our recent publications.
  1. Lamar KJ, Carvill GL  Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy.  Front Mol Neurosci  2018;11:208. doi:10.3389/fnmol.2018.00208
  2. Esterhuizen AI, Carvill GL, Ramesar RS, Kariuki SM, Newton CR, Poduri A, Wilmshurst JM  Clinical Application of Epilepsy Genetics in Africa: Is Now the Time?  Front Neurol  2018;9:276. doi:10.3389/fneur.2018.00276
  3. Howell KB, Eggers S, Dalziel K, Riseley J, Mandelstam S, Myers CT, McMahon JM, Schneider A, Carvill GL, Mefford HC, , Scheffer IE, Harvey AS  A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy.  Epilepsia  2018 Jun;59(6):1177-1187. doi:10.1111/epi.14087
  4. Myers CT, Hollingsworth G, Muir AM, Schneider AL, Thuesmunn Z, Knupp A, King C, Lacroix A, Mehaffey MG, Berkovic SF, Carvill GL, Sadleir LG, Scheffer IE, Mefford HC  Parental Mosaicism in "De Novo" Epileptic Encephalopathies.  N Engl J Med  2018 04 26;378(17):1646-1648. doi:10.1056/NEJMc1714579
  5. Chatron N, Møller RS, Champaigne NL, Schneider AL, Kuechler A, Labalme A, Simonet T, Baggett L, Bardel C, Kamsteeg EJ, Pfundt R, Romano C, Aronsson J, Alberti A, Vinci M, Miranda MJ, Lacroix A, Marjanovic D, des Portes V, Edery P, Wieczorek D, Gardella E, Scheffer IE, Mefford H, Sanlaville D, Carvill GL, Lesca G  The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.  Ann Neurol  2018 May;83(5):926-934. doi:10.1002/ana.25222
  6. Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS  Defining the phenotypic spectrum of SLC6A1 mutations.  Epilepsia  2018 Feb;59(2):389-402. doi:10.1111/epi.13986
  7. Jansen S, Hoischen A, Coe BP, Carvill GL, Van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, Hackett A, Kleefstra T, Koolen D, Kvarnung M, Larsen MJ, Marcelis C, McKenzie F, Monin ML, Nava C, Schuurs-Hoeijmakers JH, Pfundt R, Steehouwer M, Stevens SJC, Stumpel CT, Vansenne F, Vinci M, van de Vorst M, Vries P, Witherspoon K, Veltman JA, Brunner HG, Mefford HC, Romano C, Vissers LELM, Eichler EE, de Vries BBA  A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.  Eur J Hum Genet  2018 Jan;26(1):54-63. doi:10.1038/s41431-017-0039-5
  8. Carvill GL, Liu A, Mandelstam S, Schneider A, Lacroix A, Zemel M, McMahon JM, Bello-Espinosa L, Mackay M, Wallace G, Waak M, Zhang J, Yang X, Malone S, Zhang YH, Mefford HC, Scheffer IE  Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.  Epilepsia  2018 Jan;59(1):e5-e13. doi:10.1111/epi.13957
  9. Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J  Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.  Neurology  2016 Nov 08;87(19):1975-1984
  10. Carvill GL, Mefford HC  Next-Generation Sequencing in Intellectual Disability.  J Pediatr Genet  2015 Sep;4(3):128-35. doi:10.1055/s-0035-1564439
  11. Djémié T, Weckhuysen S, von Spiczak S, Carvill GL, Jaehn J, Anttonen AK, Brilstra E, Caglayan HS, de Kovel CG, Depienne C, Gaily E, Gennaro E, Giraldez BG, Gormley P, Guerrero-López R, Guerrini R, Hämäläinen E, Hartmann C, Hernandez-Hernandez L, Hjalgrim H, Koeleman BP, Leguern E, Lehesjoki AE, Lemke JR, Leu C, Marini C, McMahon JM, Mei D, Møller RS, Muhle H, Myers CT, Nava C, Serratosa JM, Sisodiya SM, Stephani U, Striano P, van Kempen MJ, Verbeek NE, Usluer S, Zara F, Palotie A, Mefford HC, Scheffer IE, De Jonghe P, Helbig I, Suls A,   Pitfalls in genetic testing: the story of missed SCN1A mutations.  Mol Genet Genomic Med  2016 Jul;4(4):457-64. doi:10.1002/mgg3.217
  12. 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 12;24(12):1761-1770. doi:10.1038/ejhg.2016.80
  13. Carvill GL, Crompton DE, Regan BM, McMahon JM, Saykally J, Zemel M, Schneider AL, Dibbens L, Howell KB, Mandelstam S, Leventer RJ, Harvey AS, Mullen SA, Berkovic SF, Sullivan J, Scheffer IE, Mefford HC  Epileptic spasms are a feature of DEPDC5 mTORopathy.  Neurol Genet  2015 Aug;1(2):e17. doi:10.1212/NXG.0000000000000016
  14. Hildebrand MS, Myers CT, Carvill GL, Regan BM, Damiano JA, Mullen SA, Newton MR, Nair U, Gazina EV, Milligan CJ, Reid CA, Petrou S, Scheffer IE, Berkovic SF, Mefford HC  A targeted resequencing gene panel for focal epilepsy.  Neurology  2016 Apr 26;86(17):1605-12. doi:10.1212/WNL.0000000000002608
  15. Afawi Z, Oliver KL, Kivity S, Mazarib A, Blatt I, Neufeld MY, Helbig KL, Goldberg-Stern H, Misk AJ, Straussberg R, Walid S, Mahajnah M, Lerman-Sagie T, Ben-Zeev B, Kahana 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 Feb 23;86(8):713-22. doi:10.1212/WNL.0000000000002404
  16. Lugtenberg D, Reijnders MR, Fenckova M, Bijlsma EK, Bernier R, van Bon BW, Smeets E, Vulto-van Silfhout AT, Bosch D, Eichler EE, Mefford HC, Carvill GL, Bongers EM, Schuurs-Hoeijmakers JH, Ruivenkamp CA, Santen GW, van den Maagdenberg AM, Peeters-Scholte CM, Kuenen S, Verstreken P, Pfundt R, Yntema HG, de Vries PF, Veltman JA, Hoischen A, Gilissen C, de Vries BB, Schenck A, Kleefstra T, Vissers LE  De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.  Eur J Hum Genet  2016 08;24(8):1145-53. doi:10.1038/ejhg.2015.282
  17. Howell KB, McMahon JM, Carvill GL, Tambunan D, Mackay MT, Rodriguez-Casero V, Webster R, Clark D, Freeman JL, Calvert S, Olson HE, Mandelstam S, Poduri A, Mefford HC, Harvey AS, Scheffer IE  SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.  Neurology  2015 Sep 15;85(11):958-66. doi:10.1212/WNL.0000000000001926
  18. Møller RS, Heron SE, Larsen LH, Lim CX, Ricos MG, Bayly MA, van Kempen MJ, Klinkenberg S, Andrews I, Kelley K, Ronen GM, Callen D, McMahon JM, Yendle SC, Carvill GL, Mefford HC, Nabbout R, Poduri A, Striano P, Baglietto MG, Zara F, Smith NJ, Pridmore C, Gardella E, Nikanorova M, Dahl HA, Gellert P, Scheffer IE, Gunning B, Kragh-Olsen B, Dibbens LM  Mutations in KCNT1 cause a spectrum of focal epilepsies.  Epilepsia  2015 Sep;56(9):e114-20. doi:10.1111/epi.13071
  19. Carvill GL, McMahon JM, Schneider A, Zemel M, Myers CT, Saykally J, Nguyen J, Robbiano A, Zara F, Specchio N, Mecarelli O, Smith RL, Leventer RJ, Møller RS, Nikanorova M, Dimova P, Jordanova A, Petrou S, , Helbig I, Striano P, Weckhuysen S, Berkovic SF, Scheffer IE, Mefford HC  Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.  Am J Hum Genet  2015 May 07;96(5):808-15. doi:10.1016/j.ajhg.2015.02.016
  20. Paemka L, Mahajan VB, Ehaideb SN, Skeie JM, Tan MC, Wu S, Cox AJ, Sowers LP, Gecz J, Jolly L, Ferguson PJ, Darbro B, Schneider A, Scheffer IE, Carvill GL, Mefford HC, El-Shanti H, Wood SA, Manak JR, Bassuk AG  Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.  PLoS Genet  2015 Mar;11(3):e1005022. doi:10.1371/journal.pgen.1005022
  21. Thomas RH, Zhang LM, Carvill GL, Archer JS, Heavin SB, Mandelstam SA, Craiu D, Berkovic SF, Gill DS, Mefford HC, Scheffer IE,   CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.  Neurology  2015 Mar 03;84(9):951-8. doi:10.1212/WNL.0000000000001305
  22. Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, Jähn JA, Jepsen B, Gill D, Döcker M, Biskup S, McMahon JM, Koeleman B, Harris M, Braun K, de Kovel CG, Marini C, Specchio N, Djémié T, Weckhuysen S, Tommerup N, Troncoso M, Troncoso L, Bevot A, Wolff M, Hjalgrim H, Guerrini R, Scheffer IE, Mefford HC, Møller RS,   The phenotypic spectrum of SCN8A encephalopathy.  Neurology  2015 Feb 03;84(5):480-9. doi:10.1212/WNL.0000000000001211
  23. Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE  Refining analyses of copy number variation identifies specific genes associated with developmental delay.  Nat Genet  2014 10;46(10):1063-71. doi:10.1038/ng.3092
  24. Vulto-van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, de Rocker N, Newhall KJ, Raghavan R, Reardon SN, Jarrett K, McIntyre T, Bulinski J, Ownby SL, Huggenvik JI, McKnight GS, Rose GM, Cai X, Willaert A, Zweier C, Endele S, de Ligt J, van Bon BW, Lugtenberg D, de Vries PF, Veltman JA, van Bokhoven H, Brunner HG, Rauch A, de Brouwer AP, Carvill GL, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Menten B, Collard MW, de Vries BB  Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.  Am J Hum Genet  2014 May 01;94(5):649-61. doi:10.1016/j.ajhg.2014.03.013
  25. Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Møller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL, Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, Helbig I, Berkovic SF, Scheffer IE, Mefford HC  GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.  Neurology  2014 Apr 08;82(14):1245-53. doi:10.1212/WNL.0000000000000291
  26. Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill GL, Meyer E, Copley RR, Rimmer A, Barcia G, Fleming MR, Kronengold J, Brown MR, Hudspith KA, Broxholme J, Kanapin A, Cazier JB, Kinoshita T, Nabbout R, , Bentley D, McVean G, Heavin S, Zaiwalla Z, McShane T, Mefford HC, Shears D, Stewart H, Kurian MA, Scheffer IE, Blair E, Donnelly P, Kaczmarek LK, Taylor JC  Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.  Hum Mol Genet  2014 Jun 15;23(12):3200-11. doi:10.1093/hmg/ddu030
  27. Yu L, Bennett JT, Wynn J, Carvill GL, Cheung YH, Shen Y, Mychaliska GB, Azarow KS, Crombleholme TM, Chung DH, Potoka D, Warner BW, Bucher B, Lim FY, Pietsch J, Stolar C, Aspelund G, Arkovitz MS, , Mefford H, Chung WK  Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.  J Med Genet  2014 Mar;51(3):197-202. doi:10.1136/jmedgenet-2013-101989
  28. Paemka L, Mahajan VB, Skeie JM, Sowers LP, Ehaideb SN, Gonzalez-Alegre P, Sasaoka T, Tao H, Miyagi A, Ueno N, Takao K, Miyakawa T, Wu S, Darbro BW, Ferguson PJ, Pieper AA, Britt JK, Wemmie JA, Rudd DS, Wassink T, El-Shanti H, Mefford HC, Carvill GL, Manak JR, Bassuk AG  PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.  PLoS One  2013;8(12):e80737. doi:10.1371/journal.pone.0080737
  29. Mullen SA, Carvill GL, Bellows S, Bayly MA, Trucks H, Lal D, Sander T, Berkovic SF, Dibbens LM, Scheffer IE, Mefford HC  Copy number variants are frequent in genetic generalized epilepsy with intellectual disability.  Neurology  2013 Oct 22;81(17):1507-14. doi:10.1212/WNL.0b013e3182a95829
  30. Carvill GL, Regan BM, Yendle SC, O'Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, Damiano JA, Berkovic SF, Shendure J, Hildebrand MS, Szepetowski P, Scheffer IE, Mefford HC  GRIN2A mutations cause epilepsy-aphasia spectrum disorders.  Nat Genet  2013 Sep;45(9):1073-6. doi:10.1038/ng.2727
  31. Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC  Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.  Nat Genet  2013 Jul;45(7):825-30. doi:10.1038/ng.2646
  32. Carvill GL, Mefford HC  Microdeletion syndromes.  Curr Opin Genet Dev  2013 Jun;23(3):232-9. doi:10.1016/j.gde.2013.03.004