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Items: 1 to 20 of 29

1.

Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies.

Epi4K Consortium.

Epilepsia. 2019 Nov;60(11):2194-2203. doi: 10.1111/epi.16354. Epub 2019 Oct 17.

PMID:
31625138
2.

Genetic attribution and perceived impact of epilepsy in multiplex epilepsy families.

Garofalo DC, Sorge ST, Hesdorffer DC, Winawer MR, Phelan JC, Chung WK, Ottman R.

Epilepsia. 2019 Nov;60(11):2286-2293. doi: 10.1111/epi.16352. Epub 2019 Oct 6.

PMID:
31587270
3.

Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.

Winawer MR, Griffin NG, Samanamud J, Baugh EH, Rathakrishnan D, Ramalingam S, Zagzag D, Schevon CA, Dugan P, Hegde M, Sheth SA, McKhann GM, Doyle WK, Grant GA, Porter BE, Mikati MA, Muh CR, Malone CD, Bergin AMR, Peters JM, McBrian DK, Pack AM, Akman CI, LaCoursiere CM, Keever KM, Madsen JR, Yang E, Lidov HGW, Shain C, Allen AS, Canoll PD, Crino PB, Poduri AH, Heinzen EL.

Ann Neurol. 2018 Jun;83(6):1133-1146. doi: 10.1002/ana.25243. Epub 2018 May 16.

4.

Familial aggregation of focal seizure semiology in the Epilepsy Phenome/Genome Project.

Tobochnik S, Fahlstrom R, Shain C, Winawer MR; EPGP Investigators.

Neurology. 2017 Jul 4;89(1):22-28. doi: 10.1212/WNL.0000000000004052. Epub 2017 May 31.

5.

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.

6.

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
7.

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.

8.

Depression and genetic causal attribution of epilepsy in multiplex epilepsy families.

Sorge ST, Hesdorffer DC, Phelan JC, Winawer MR, Shostak S, Goldsmith J, Chung WK, Ottman R.

Epilepsia. 2016 Oct;57(10):1643-1650. doi: 10.1111/epi.13500. Epub 2016 Aug 25.

9.

Genetic effects on sleep/wake variation of seizures.

Winawer MR, Shih J, Beck ES, Hunter JE, Epstein MP; EPGP Investigators.

Epilepsia. 2016 Apr;57(4):557-65. doi: 10.1111/epi.13330. Epub 2016 Mar 6.

10.

Parents' interest in genetic testing of their offspring in multiplex epilepsy families.

Caminiti CB, Hesdorffer DC, Shostak S, Goldsmith J, Sorge ST, Winawer MR, Phelan JC, Chung WK, Ottman R.

Epilepsia. 2016 Feb;57(2):279-87. doi: 10.1111/epi.13287. Epub 2015 Dec 22.

11.

Genetic causal attribution of epilepsy and its implications for felt stigma.

Sabatello M, Phelan JC, Hesdorffer DC, Shostak S, Goldsmith J, Sorge ST, Winawer MR, Chung WK, Ottman R.

Epilepsia. 2015 Oct;56(10):1542-50. doi: 10.1111/epi.13113. Epub 2015 Aug 20.

12.

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.

13.

Genetic testing preferences in families containing multiple individuals with epilepsy.

Okeke JO, Tangel VE, Sorge ST, Hesdorffer DC, Winawer MR, Goldsmith J, Phelan JC, Chung WK, Shostak S, Ottman R.

Epilepsia. 2014 Nov;55(11):1705-13. doi: 10.1111/epi.12810. Epub 2014 Sep 29.

14.

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. Erratum in: Am J Hum Genet. 2017 Jan 5;100(1):179.

15.

Authors' response to letter by A. Mazarati.

Brooks-Kayal AR, Bath KG, Berg AT, Galanopoulou AS, Holmes GL, Jensen FE, Kanner AM, O'Brien TJ, Whittemore VH, Winawer MR, Patel M, Scharfman HE.

Epilepsia. 2013 Dec;54(12):2229-30. doi: 10.1111/epi.12414. No abstract available.

16.

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.

17.

Issues related to symptomatic and disease-modifying treatments affecting cognitive and neuropsychiatric comorbidities of epilepsy.

Brooks-Kayal AR, Bath KG, Berg AT, Galanopoulou AS, Holmes GL, Jensen FE, Kanner AM, O'Brien TJ, Whittemore VH, Winawer MR, Patel M, Scharfman HE.

Epilepsia. 2013 Aug;54 Suppl 4:44-60. doi: 10.1111/epi.12298. Review.

18.

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.

19.

Glyoxalase 1 and its substrate methylglyoxal are novel regulators of seizure susceptibility.

Distler MG, Gorfinkle N, Papale LA, Wuenschell GE, Termini J, Escayg A, Winawer MR, Palmer AA.

Epilepsia. 2013 Apr;54(4):649-57. doi: 10.1111/epi.12121. Epub 2013 Feb 14.

20.

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.

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