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Items: 18

1.

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

Epi4K Consortium.

Epilepsia. 2019 Oct 17. doi: 10.1111/epi.16354. [Epub ahead of print]

PMID:
31625138
2.

The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield.

Epilepsy Genetics Initiative.

Epilepsia. 2019 May;60(5):797-806. doi: 10.1111/epi.14698. Epub 2019 Apr 5.

3.

Lorcaserin therapy for severe epilepsy of childhood onset: A case series.

Tolete P, Knupp K, Karlovich M, DeCarlo E, Bluvstein J, Conway E, Friedman D, Dugan P, Devinsky O.

Neurology. 2018 Oct 30;91(18):837-839. doi: 10.1212/WNL.0000000000006432. Epub 2018 Sep 26. No abstract available.

4.

The impact of hypsarrhythmia on infantile spasms treatment response: Observational cohort study from the National Infantile Spasms Consortium.

Demarest ST, Shellhaas RA, Gaillard WD, Keator C, Nickels KC, Hussain SA, Loddenkemper T, Patel AD, Saneto RP, Wirrell E, Sánchez Fernández I, Chu CJ, Grinspan Z, Wusthoff CJ, Joshi S, Mohamed IS, Stafstrom CE, Stack CV, Yozawitz E, Bluvstein JS, Singh RK, Knupp KG; Pediatric Epilepsy Research Consortium.

Epilepsia. 2017 Dec;58(12):2098-2103. doi: 10.1111/epi.13937. Epub 2017 Nov 3.

5.

Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome.

Devinsky O, Cross JH, Laux L, Marsh E, Miller I, Nabbout R, Scheffer IE, Thiele EA, Wright S; Cannabidiol in Dravet Syndrome Study Group.

N Engl J Med. 2017 May 25;376(21):2011-2020. doi: 10.1056/NEJMoa1611618.

6.

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.

7.

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
8.

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.

9.

Cannabidiol as a Potential Treatment for Febrile Infection-Related Epilepsy Syndrome (FIRES) in the Acute and Chronic Phases.

Gofshteyn JS, Wilfong A, Devinsky O, Bluvstein J, Charuta J, Ciliberto MA, Laux L, Marsh ED.

J Child Neurol. 2017 Jan;32(1):35-40. doi: 10.1177/0883073816669450. Epub 2016 Sep 29.

PMID:
27655472
10.

Cannabidiol in patients with treatment-resistant epilepsy: an open-label interventional trial.

Devinsky O, Marsh E, Friedman D, Thiele E, Laux L, Sullivan J, Miller I, Flamini R, Wilfong A, Filloux F, Wong M, Tilton N, Bruno P, Bluvstein J, Hedlund J, Kamens R, Maclean J, Nangia S, Singhal NS, Wilson CA, Patel A, Cilio MR.

Lancet Neurol. 2016 Mar;15(3):270-8. doi: 10.1016/S1474-4422(15)00379-8. Epub 2015 Dec 24. Erratum in: Lancet Neurol. 2016 Apr;15(4):352.

PMID:
26724101
11.

Treatment Resistant Epilepsy in Autism Spectrum Disorder: Increased Risk for Females.

Blackmon K, Bluvstein J, MacAllister WS, Avallone J, Misajon J, Hedlund J, Goldberg R, Bojko A, Mitra N, Giridharan R, Sultan R, Keller S, Devinsky O.

Autism Res. 2016 Feb;9(2):311-20. doi: 10.1002/aur.1514. Epub 2015 Jun 26.

PMID:
26112160
12.

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.

13.

Auras in generalized epilepsy.

Dugan P, Carlson C, Bluvstein J, Chong DJ, Friedman D, Kirsch HE; EPGP Investigators.

Neurology. 2014 Oct 14;83(16):1444-9. doi: 10.1212/WNL.0000000000000877. Epub 2014 Sep 17.

14.

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.

15.

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.

16.

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.

17.

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.

18.

Medically refractory epilepsy in autism.

Sansa G, Carlson C, Doyle W, Weiner HL, Bluvstein J, Barr W, Devinsky O.

Epilepsia. 2011 Jun;52(6):1071-5. doi: 10.1111/j.1528-1167.2011.03069.x. Epub 2011 Apr 19.

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