Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

84 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G; PURA study group. Johannesen KM, et al. Among authors: rouhl rpw. Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34790866 Free PMC article.
Myoclonus in comatose patients with electrographic status epilepticus after cardiac arrest: Corresponding EEG patterns, effects of treatment and outcomes.
Nutma S, Ruijter BJ, Beishuizen A, Tromp SC, Scholten E, Horn J, van den Bergh WM, van Kranen-Mastenbroek VH, Thomeer EC, Moudrous W, Aries M, van Putten MJ, Hofmeijer J; TELSTAR Investigators. Nutma S, et al. Resuscitation. 2023 May;186:109745. doi: 10.1016/j.resuscitation.2023.109745. Epub 2023 Feb 22. Resuscitation. 2023. PMID: 36822459 Clinical Trial.
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D. Reijnders MRF, et al. Among authors: rouhl rpw. J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2. J Med Genet. 2018. PMID: 29097605 Free PMC article. Review.
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Mulhern MS, Stumpel C, Stong N, Brunner HG, Bier L, Lippa N, Riviello J, Rouhl RPW, Kempers M, Pfundt R, Stegmann APA, Kukolich MK, Telegrafi A, Lehman A; CAUSES study; Lopez-Rangel E, Houcinat N, Barth M, den Hollander N, Hoffer MJV, Weckhuysen S; EuroEPINOMICS-RES-MAE working group; Roovers J, Djemie T, Barca D, Ceulemans B, Craiu D, Lemke JR, Korff C, Mefford HC, Meyers CT, Siegler Z, Hiatt SM, Cooper GM, Bebin EM, Snijders Blok L, Veenstra-Knol HE, Baugh EH, Brilstra EH, Volker-Touw CML, van Binsbergen E, Revah-Politi A, Pereira E, McBrian D, Pacault M, Isidor B, Le Caignec C, Gilbert-Dussardier B, Bilan F, Heinzen EL, Goldstein DB, Stevens SJC, Sands TT. Mulhern MS, et al. Among authors: rouhl rpw. Ann Neurol. 2018 Nov;84(5):788-795. doi: 10.1002/ana.25350. Epub 2018 Oct 25. Ann Neurol. 2018. PMID: 30269351 Free PMC article.
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Teunissen MWA, Lewerissa E, van Hugte EJH, Wang S, Ockeloen CW, Koolen DA, Pfundt R, Marcelis CLM, Brilstra E, Howe JL, Scherer SW, Le Guillou X, Bilan F, Primiano M, Roohi J, Piton A, de Saint Martin A, Baer S, Seiffert S, Platzer K, Jamra RA, Syrbe S, Doering JH, Lakhani S, Nangia S, Gilissen C, Vermeulen RJ, Rouhl RPW, Brunner HG, Willemsen MH, Nadif Kasri N. Teunissen MWA, et al. Among authors: rouhl rpw. Hum Mol Genet. 2023 Jul 4;32(14):2373-2385. doi: 10.1093/hmg/ddad081. Hum Mol Genet. 2023. PMID: 37195288 Free PMC article.
Deep Brain Stimulation of the Anterior Nucleus of the Thalamus in Drug-Resistant Epilepsy in the MORE Multicenter Patient Registry.
Peltola J, Colon AJ, Pimentel J, Coenen VA, Gil-Nagel A, Gonçalves Ferreira A, Lehtimäki K, Ryvlin P, Taylor RS, Ackermans L, Ardesch J, Bentes C, Bosak M, Burneo JG, Chamadoira C, Elger CE, Erőss L, Fabo D, Faulkner H, Gawlowicz J, Gharabaghi A, Iacoangeli M, Janszky J, Järvenpää S, Kaufmann E, Kho KH, Kumlien E, Laufs H, Lettieri C, Linhares P, Noachtar S, Parrent A, Pataraia E, Patel NK, Peralta AR, Rácz A, Campos AR, Rego R, Ricciuti RA, Rona S, Rouhl RPW, Schulze-Bonhage A, Schuurman R, Sprengers M, Sufianov A, Temel Y, Theys T, Van Paesschen W, Van Roost D, Vaz R, Vonck K, Wagner L, Zwemmer J, Abouihia A, Brionne TC, Gielen F, Boon PAJM; MORE Study Group. Peltola J, et al. Among authors: rouhl rpw. Neurology. 2023 May 2;100(18):e1852-e1865. doi: 10.1212/WNL.0000000000206887. Epub 2023 Mar 16. Neurology. 2023. PMID: 36927882 Free PMC article. Clinical Trial.
Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery.
Blumcke I, Spreafico R, Haaker G, Coras R, Kobow K, Bien CG, Pfäfflin M, Elger C, Widman G, Schramm J, Becker A, Braun KP, Leijten F, Baayen JC, Aronica E, Chassoux F, Hamer H, Stefan H, Rössler K, Thom M, Walker MC, Sisodiya SM, Duncan JS, McEvoy AW, Pieper T, Holthausen H, Kudernatsch M, Meencke HJ, Kahane P, Schulze-Bonhage A, Zentner J, Heiland DH, Urbach H, Steinhoff BJ, Bast T, Tassi L, Lo Russo G, Özkara C, Oz B, Krsek P, Vogelgesang S, Runge U, Lerche H, Weber Y, Honavar M, Pimentel J, Arzimanoglou A, Ulate-Campos A, Noachtar S, Hartl E, Schijns O, Guerrini R, Barba C, Jacques TS, Cross JH, Feucht M, Mühlebner A, Grunwald T, Trinka E, Winkler PA, Gil-Nagel A, Toledano Delgado R, Mayer T, Lutz M, Zountsas B, Garganis K, Rosenow F, Hermsen A, von Oertzen TJ, Diepgen TL, Avanzini G; EEBB Consortium. Blumcke I, et al. N Engl J Med. 2017 Oct 26;377(17):1648-1656. doi: 10.1056/NEJMoa1703784. N Engl J Med. 2017. PMID: 29069555 Free article.
Anti-GAD65 autoantibody levels measured by ELISA and alternative types of immunoassays in relation to neuropsychiatric diseases versus diabetes mellitus type 1.
Zong S, Vinke AM, Du P, Hoffmann C, Mané-Damas M, Molenaar PC, Damoiseaux JGMC, Losen M, Rouhl RPW, Martinez-Martinez P. Zong S, et al. Among authors: rouhl rpw. Front Neurol. 2023 May 25;14:1111063. doi: 10.3389/fneur.2023.1111063. eCollection 2023. Front Neurol. 2023. PMID: 37305746 Free PMC article.
Mapping Lesion-Related Epilepsy to a Human Brain Network.
Schaper FLWVJ, Nordberg J, Cohen AL, Lin C, Hsu J, Horn A, Ferguson MA, Siddiqi SH, Drew W, Soussand L, Winkler AM, Simó M, Bruna J, Rheims S, Guenot M, Bucci M, Nummenmaa L, Staals J, Colon AJ, Ackermans L, Bubrick EJ, Peters JM, Wu O, Rost NS, Grafman J, Blumenfeld H, Temel Y, Rouhl RPW, Joutsa J, Fox MD. Schaper FLWVJ, et al. Among authors: rouhl rpw. JAMA Neurol. 2023 Sep 1;80(9):891-902. doi: 10.1001/jamaneurol.2023.1988. JAMA Neurol. 2023. PMID: 37399040 Free PMC article.
84 results