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Page 1
Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.
Lerche H, Berkovic SF, Lowenstein DH; EuroEPINOMICS-CoGIE Consortium; EpiPGX Consortium; Epi4K Consortium/Epilepsy Phenome/Genome Project. Lerche H, et al. N Engl J Med. 2019 Apr 18;380(16):e24. doi: 10.1056/NEJMc1805100. N Engl J Med. 2019. PMID: 30995385 Free article. No abstract available.
The epilepsy phenome/genome project.
EPGP Collaborative; Abou-Khalil B, Alldredge B, Bautista J, Berkovic S, Bluvstein J, Boro A, Cascino G, Consalvo D, Cristofaro S, Crumrine P, Devinsky O, Dlugos D, Epstein M, Fahlstrom R, Fiol M, Fountain N, Fox K, French J, Freyer Karn C, Friedman D, Geller E, Glauser T, Glynn S, Haas K, Haut S, Hayward J, Helmers S, Joshi S, Kanner A, Kirsch H, Knowlton R, Kossoff E, Kuperman R, Kuzniecky R, Lowenstein D, McGuire S, Motika P, Nesbitt G, Novotny E, Ottman R, Paolicchi J, Parent J, Park K, Poduri A, Risch N, Sadleir L, Scheffer I, Shellhaas R, Sherr E, Shih JJ, Shinnar S, Singh R, Sirven J, Smith M, Sullivan J, Thio LL, Venkat A, Vining E, von Allmen G, Weisenberg J, Widdess-Walsh P, Winawer M. EPGP Collaborative, et al. Clin Trials. 2013 Aug;10(4):568-86. doi: 10.1177/1740774513484392. Epub 2013 Jul 1. Clin Trials. 2013. PMID: 23818435 Free PMC article.
Maternal transmission of Alzheimer disease.
Heggeli KA, Crook J, Thomas C, Graff-Radford N. Heggeli KA, et al. Alzheimer Dis Assoc Disord. 2012 Oct-Dec;26(4):364-6. doi: 10.1097/WAD.0b013e318247d203. Alzheimer Dis Assoc Disord. 2012. PMID: 22273801 Free PMC article.
Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients.
McCormack M, Gui H, Ingason A, Speed D, Wright GEB, Zhang EJ, Secolin R, Yasuda C, Kwok M, Wolking S, Becker F, Rau S, Avbersek A, Heggeli K, Leu C, Depondt C, Sills GJ, Marson AG, Auce P, Brodie MJ, Francis B, Johnson MR, Koeleman BPC, Striano P, Coppola A, Zara F, Kunz WS, Sander JW, Lerche H, Klein KM, Weckhuysen S, Krenn M, Gudmundsson LJ, Stefánsson K, Krause R, Shear N, Ross CJD, Delanty N; EPIGEN Consortium;; Pirmohamed M, Carleton BC; Canadian Pharmacogenomics Network for Drug Safety;; Cendes F, Lopes-Cendes I, Liao WP, O'Brien TJ, Sisodiya SM; EpiPGX Consortium;; Cherny S, Kwan P, Baum L; International League Against Epilepsy Consortium on Complex Epilepsies;; Cavalleri GL. McCormack M, et al. Among authors: heggeli k. Neurology. 2018 Jan 23;90(4):e332-e341. doi: 10.1212/WNL.0000000000004853. Epub 2017 Dec 29. Neurology. 2018. PMID: 29288229 Free PMC article.
TDP-43 frontotemporal lobar degeneration and autoimmune disease.
Miller ZA, Rankin KP, Graff-Radford NR, Takada LT, Sturm VE, Cleveland CM, Criswell LA, Jaeger PA, Stan T, Heggeli KA, Hsu SC, Karydas A, Khan BK, Grinberg LT, Gorno-Tempini ML, Boxer AL, Rosen HJ, Kramer JH, Coppola G, Geschwind DH, Rademakers R, Seeley WW, Wyss-Coray T, Miller BL. Miller ZA, et al. Among authors: heggeli ka. J Neurol Neurosurg Psychiatry. 2013 Sep;84(9):956-62. doi: 10.1136/jnnp-2012-304644. Epub 2013 Mar 30. J Neurol Neurosurg Psychiatry. 2013. PMID: 23543794 Free PMC article.
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.
Leu C, Balestrini S, Maher B, Hernández-Hernández L, Gormley P, Hämäläinen E, Heggeli K, Schoeler N, Novy J, Willis J, Plagnol V, Ellis R, Reavey E, O'Regan M, Pickrell WO, Thomas RH, Chung SK, Delanty N, McMahon JM, Malone S, Sadleir LG, Berkovic SF, Nashef L, Zuberi SM, Rees MI, Cavalleri GL, Sander JW, Hughes E, Helen Cross J, Scheffer IE, Palotie A, Sisodiya SM. Leu C, et al. Among authors: heggeli k. EBioMedicine. 2015 Jul 10;2(9):1063-70. doi: 10.1016/j.ebiom.2015.07.005. eCollection 2015 Sep. EBioMedicine. 2015. PMID: 26501104 Free PMC article.
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.
May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortium. May P, et al. Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17. Lancet Neurol. 2018. PMID: 30033060 Free article.
A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine.
Berghuis B, Stapleton C, Sonsma ACM, Hulst J, de Haan GJ, Lindhout D, Demurtas R; EpiPGX Consortium; Krause R, Depondt C, Kunz WS, Zara F, Striano P, Craig J, Auce P, Marson AG, Stefansson H, O'Brien TJ, Johnson MR, Sills GJ, Wolking S, Lerche H, Sisodiya SM, Sander JW, Cavalleri GL, Koeleman BPC, McCormack M. Berghuis B, et al. Epilepsia Open. 2019 Jan 17;4(1):102-109. doi: 10.1002/epi4.12297. eCollection 2019 Mar. Epilepsia Open. 2019. PMID: 30868120 Free PMC article.