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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

79 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G. Bonardi CM, et al. Among authors: verbeek n. Brain. 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219. Brain. 2021. PMID: 34114611
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.
van Harssel JJ, Weckhuysen S, van Kempen MJ, Hardies K, Verbeek NE, de Kovel CG, Gunning WB, van Daalen E, de Jonge MV, Jansen AC, Vermeulen RJ, Arts WF, Verhelst H, Fogarasi A, de Rijk-van Andel JF, Kelemen A, Lindhout D, De Jonghe P, Koeleman BP, Suls A, Brilstra EH. van Harssel JJ, et al. Among authors: verbeek ne. Neurogenetics. 2013 Feb;14(1):23-34. doi: 10.1007/s10048-013-0353-1. Epub 2013 Jan 20. Neurogenetics. 2013. PMID: 23334464
Effect of vaccinations on seizure risk and disease course in Dravet syndrome.
Verbeek NE, van der Maas NA, Sonsma AC, Ippel E, Vermeer-de Bondt PE, Hagebeuk E, Jansen FE, Geesink HH, Braun KP, de Louw A, Augustijn PB, Neuteboom RF, Schieving JH, Stroink H, Vermeulen RJ, Nicolai J, Brouwer OF, van Kempen M, de Kovel CG, Kemmeren JM, Koeleman BP, Knoers NV, Lindhout D, Gunning WB, Brilstra EH. Verbeek NE, et al. Neurology. 2015 Aug 18;85(7):596-603. doi: 10.1212/WNL.0000000000001855. Epub 2015 Jul 22. Neurology. 2015. PMID: 26203087
Pitfalls in genetic testing: the story of missed SCN1A mutations.
Djémié T, Weckhuysen S, von Spiczak S, Carvill GL, Jaehn J, Anttonen AK, Brilstra E, Caglayan HS, de Kovel CG, Depienne C, Gaily E, Gennaro E, Giraldez BG, Gormley P, Guerrero-López R, Guerrini R, Hämäläinen E, Hartmann C, Hernandez-Hernandez L, Hjalgrim H, Koeleman BP, Leguern E, Lehesjoki AE, Lemke JR, Leu C, Marini C, McMahon JM, Mei D, Møller RS, Muhle H, Myers CT, Nava C, Serratosa JM, Sisodiya SM, Stephani U, Striano P, van Kempen MJ, Verbeek NE, Usluer S, Zara F, Palotie A, Mefford HC, Scheffer IE, De Jonghe P, Helbig I, Suls A; EuroEPINOMICS‐RES Dravet working group. Djémié T, et al. Mol Genet Genomic Med. 2016 Apr 14;4(4):457-64. doi: 10.1002/mgg3.217. eCollection 2016 Jul. Mol Genet Genomic Med. 2016. PMID: 27465585 Free PMC article.
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
de Kovel CG, Brilstra EH, van Kempen MJ, Van't Slot R, Nijman IJ, Afawi Z, De Jonghe P, Djémié T, Guerrini R, Hardies K, Helbig I, Hendrickx R, Kanaan M, Kramer U, Lehesjoki AE, Lemke JR, Marini C, Mei D, Møller RS, Pendziwiat M, Stamberger H, Suls A, Weckhuysen S; EuroEPINOMICS RES Consortium; Koeleman BP. de Kovel CG, et al. Mol Genet Genomic Med. 2016 Jul 30;4(5):568-80. doi: 10.1002/mgg3.235. eCollection 2016 Sep. Mol Genet Genomic Med. 2016. PMID: 27652284 Free PMC article.
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G; DDD Study; Attié-Bitach T, Boutaud L, Héron D, Mignot C. Depienne C, et al. Hum Genet. 2017 Apr;136(4):463-479. doi: 10.1007/s00439-017-1772-0. Epub 2017 Mar 10. Hum Genet. 2017. PMID: 28283832 Free PMC article.
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Wolff M, et al. Among authors: verbeek n. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
de Kovel CGF, Syrbe S, Brilstra EH, Verbeek N, Kerr B, Dubbs H, Bayat A, Desai S, Naidu S, Srivastava S, Cagaylan H, Yis U, Saunders C, Rook M, Plugge S, Muhle H, Afawi Z, Klein KM, Jayaraman V, Rajagopalan R, Goldberg E, Marsh E, Kessler S, Bergqvist C, Conlin LK, Krok BL, Thiffault I, Pendziwiat M, Helbig I, Polster T, Borggraefe I, Lemke JR, van den Boogaardt MJ, Møller RS, Koeleman BPC. de Kovel CGF, et al. Among authors: verbeek n. JAMA Neurol. 2017 Oct 1;74(10):1228-1236. doi: 10.1001/jamaneurol.2017.1714. JAMA Neurol. 2017. PMID: 28806457 Free PMC article.
79 results