Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 14

1.

Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data.

Epi4K Consortium; EuroEPINOMICS-RES Consortium; Epilepsy Phenome Genome Project.

Eur J Hum Genet. 2017 Jun;25(7):894-899. doi: 10.1038/ejhg.2017.61. Epub 2017 May 17.

PMID:
28513609
2.

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.

Epi4K consortium; Epilepsy Phenome/Genome Project.

Lancet Neurol. 2017 Feb;16(2):135-143. doi: 10.1016/S1474-4422(16)30359-3.

PMID:
28102150
3.

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.

EuroEPINOMICS-RES Consortium. Electronic address: euroepinomics-RES@ua.ac.be; Epilepsy Phenome/Genome Project; Epi4K Consortium; EuroEPINOMICS-RES Consortium.

Am J Hum Genet. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016.12.012. No abstract available.

4.

Treatment of Epilepsy in the Elderly.

Motika PV, Spencer DC.

Curr Neurol Neurosci Rep. 2016 Nov;16(11):96. doi: 10.1007/s11910-016-0696-8. Review.

PMID:
27628963
5.

Can statins prevent seizures after strokes?

Motika PV.

Neurology. 2015 Aug 25;85(8):e66-8. doi: 10.1212/WNL.0000000000001921. No abstract available.

PMID:
26304684
6.

Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy.

Epilepsy Phenome/Genome Project Epi4K Consortium.

Ann Neurol. 2015 Aug;78(2):323-8. doi: 10.1002/ana.24457. Epub 2015 Jul 1.

7.

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

EuroEPINOMICS-RES Consortium; Epilepsy Phenome/Genome Project; Epi4K Consortium.

Am J Hum Genet. 2014 Oct 2;95(4):360-70. doi: 10.1016/j.ajhg.2014.08.013. Epub 2014 Sep 25.

8.

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.

9.

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.

10.

De novo mutations in epileptic encephalopathies.

Epi4K Consortium; Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR.

Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11.

11.

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
12.

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.

13.

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.

14.

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.

Supplemental Content

Loading ...
Support Center