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Items: 1 to 20 of 92

1.

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.

Clin Trials. 2013 Aug;10(4):568-86. doi: 10.1177/1740774513484392. Epub 2013 Jul 1.

PMID:
23818435
2.

The Epilepsy Phenome/Genome Project (EPGP) informatics platform.

Nesbitt G, McKenna K, Mays V, Carpenter A, Miller K, Williams M; EPGP Investigators.

Int J Med Inform. 2013 Apr;82(4):248-59. doi: 10.1016/j.ijmedinf.2012.03.004. Epub 2012 May 10.

3.

Lennox-Gastaut syndrome of unknown cause: phenotypic characteristics of patients in the Epilepsy Phenome/Genome Project.

Widdess-Walsh P, Dlugos D, Fahlstrom R, Joshi S, Shellhaas R, Boro A, Sullivan J, Geller E; EPGP Investigators.

Epilepsia. 2013 Nov;54(11):1898-904. doi: 10.1111/epi.12395. Epub 2013 Oct 7.

4.

Racial and ethnic differences in epilepsy classification among probands in the Epilepsy Phenome/Genome Project (EPGP).

Friedman D, Fahlstrom R; EPGP Investigators.

Epilepsy Res. 2013 Dec;107(3):306-10. doi: 10.1016/j.eplepsyres.2013.09.007. Epub 2013 Oct 1.

5.

Surpassing the Target: How a Recruitment Campaign Transformed the Participant Accrual Trajectory in the Epilepsy Phenome/Genome Project.

McGovern K, Karn CF, Fox K; EPGP Investigators.

Clin Transl Sci. 2015 Oct;8(5):518-25. doi: 10.1111/cts.12307. Epub 2015 Jul 14.

PMID:
26176343
6.

Polymicrogyria-associated epilepsy: a multicenter phenotypic study from the Epilepsy Phenome/Genome Project.

Shain C, Ramgopal S, Fallil Z, Parulkar I, Alongi R, Knowlton R, Poduri A; EPGP Investigators.

Epilepsia. 2013 Aug;54(8):1368-75. doi: 10.1111/epi.12238. Epub 2013 Jun 10.

7.

Evidence for a shared genetic susceptibility to migraine and epilepsy.

Winawer MR, Connors R; EPGP Investigators.

Epilepsia. 2013 Feb;54(2):288-95. doi: 10.1111/epi.12072. Epub 2013 Jan 7.

8.

Analysis of genetically complex epilepsies.

Ottman R.

Epilepsia. 2005;46 Suppl 10:7-14. Review.

9.

Do idiopathic generalized epilepsies share a common susceptibility gene?

Janz D, Beck-Mannagetta G, Sander T.

Neurology. 1992 Apr;42(4 Suppl 5):48-55.

PMID:
1574176
10.

Phenotype definition in epilepsy.

Winawer MR.

Epilepsy Behav. 2006 May;8(3):462-76. Epub 2006 Feb 23. Review.

PMID:
16497563
11.

Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Bürki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lakshminarasimhan M, Kröll J, Dorn T, Krämer G, Synofzik M, Becker F, Weber YG, Lerche H, Böhm D, Biskup S.

Epilepsia. 2012 Aug;53(8):1387-98. doi: 10.1111/j.1528-1167.2012.03516.x. Epub 2012 May 21.

12.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
13.

Looking for epilepsy genes: clinical and molecular genetic studies.

Delgado-Escueta AV, White R, Greenberg DA, Treiman LJ.

Adv Neurol. 1986;44:77-95. Review.

PMID:
3010682
14.

A genetic epidemiological survey of idiopathic epilepsy in the Chinese Han population.

Li M, Heng X, Tao R, Liu J, Zhang L, Sun X, Wang L, Wu Q, Che F, Xue F.

Epilepsy Res. 2012 Feb;98(2-3):199-205. doi: 10.1016/j.eplepsyres.2011.09.013. Epub 2011 Oct 12.

PMID:
21993360
15.

Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations.

Michelucci R, Pasini E, Malacrida S, Striano P, Bonaventura CD, Pulitano P, Bisulli F, Egeo G, Santulli L, Sofia V, Gambardella A, Elia M, de Falco A, Neve Al, Banfi P, Coppola G, Avoni P, Binelli S, Boniver C, Pisano T, Marchini M, Dazzo E, Fanciulli M, Bartolini Y, Riguzzi P, Volpi L, de Falco FA, Giallonardo AT, Mecarelli O, Striano S, Tinuper P, Nobile C.

Epilepsia. 2013 Jul;54(7):1288-97. doi: 10.1111/epi.12194. Epub 2013 Apr 26.

16.

Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study.

Cavalleri GL, Weale ME, Shianna KV, Singh R, Lynch JM, Grinton B, Szoeke C, Murphy K, Kinirons P, O'Rourke D, Ge D, Depondt C, Claeys KG, Pandolfo M, Gumbs C, Walley N, McNamara J, Mulley JC, Linney KN, Sheffield LJ, Radtke RA, Tate SK, Chissoe SL, Gibson RA, Hosford D, Stanton A, Graves TD, Hanna MG, Eriksson K, Kantanen AM, Kalviainen R, O'Brien TJ, Sander JW, Duncan JS, Scheffer IE, Berkovic SF, Wood NW, Doherty CP, Delanty N, Sisodiya SM, Goldstein DB.

Lancet Neurol. 2007 Nov;6(11):970-80.

PMID:
17913586
17.

Genetic heterogeneity in the epilepsies.

Anderson VE, Hauser WA, Rich SS.

Adv Neurol. 1986;44:59-75. Review.

PMID:
3518348
18.

[Genetic aspects of epilepsy].

Gandelman-Marton R, Neufeld MY.

Harefuah. 2008 Feb;147(2):139-44, 182. Review. Hebrew.

PMID:
18357672
19.

The three stages of epilepsy in patients with CDKL5 mutations.

Bahi-Buisson N, Kaminska A, Boddaert N, Rio M, Afenjar A, Gérard M, Giuliano F, Motte J, Héron D, Morel MA, Plouin P, Richelme C, des Portes V, Dulac O, Philippe C, Chiron C, Nabbout R, Bienvenu T.

Epilepsia. 2008 Jun;49(6):1027-37. doi: 10.1111/j.1528-1167.2007.01520.x. Epub 2008 Feb 7.

20.

Suggestive evidence for a new locus for epilepsy with heterogeneous phenotypes on chromosome 17q.

Sirén A, Polvi A, Chahine L, Labuda M, Bourgoin S, Anttonen AK, Kousi M, Hirvonen K, Simola KO, Andermann E, Laiho A, Soini J, Koivikko M, Laaksonen R, Pandolfo M, Lehesjoki AE.

Epilepsy Res. 2010 Jan;88(1):65-75. doi: 10.1016/j.eplepsyres.2009.09.022. Epub 2009 Nov 14.

PMID:
19914042
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