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Page 1
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Syrbe S, Hedrich UBS, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES consortium; Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR. Syrbe S, et al. Among authors: suls a. Nat Genet. 2015 Apr;47(4):393-399. doi: 10.1038/ng.3239. Epub 2015 Mar 9. Nat Genet. 2015. PMID: 25751627 Free PMC article.
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cancès C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O, Robbiano A, Keren B, Agher D, Roze E, Lesage S, Nicolas A, Brice A, Baulac M, Vogt C, El Hajj N, Schneider E, Suls A, Weckhuysen S, Gormley P, Lehesjoki AE, De Jonghe P, Helbig I, Baulac S, Zara F, Koeleman BP; EuroEPINOMICS RES Consortium; Haaf T, LeGuern E, Depienne C. Nava C, et al. Among authors: suls a. Nat Genet. 2014 Jun;46(6):640-5. doi: 10.1038/ng.2952. Epub 2014 Apr 20. Nat Genet. 2014. PMID: 24747641
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I; EuroEPINOMICS RES Consortium. Suls A, et al. Am J Hum Genet. 2013 Nov 7;93(5):967-75. doi: 10.1016/j.ajhg.2013.09.017. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207121 Free PMC article.
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium; Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H. Schubert J, et al. Among authors: suls a. Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub 2014 Nov 2. Nat Genet. 2014. PMID: 25362483
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.
Hardies K, May P, Djémié T, Tarta-Arsene O, Deconinck T, Craiu D; AR working group of the EuroEPINOMICS RES Consortium; Helbig I, Suls A, Balling R, Weckhuysen S, De Jonghe P, Hirst J. Hardies K, et al. Among authors: suls a. Hum Mol Genet. 2015 Apr 15;24(8):2218-27. doi: 10.1093/hmg/ddu740. Epub 2014 Dec 30. Hum Mol Genet. 2015. PMID: 25552650 Free PMC article.
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF, Scheffer IE, de Jonghe P. Weckhuysen S, et al. Among authors: suls a. Ann Neurol. 2012 Jan;71(1):15-25. doi: 10.1002/ana.22644. Ann Neurol. 2012. PMID: 22275249
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.
Weckhuysen S, Holmgren P, Hendrickx R, Jansen AC, Hasaerts D, Dielman C, de Bellescize J, Boutry-Kryza N, Lesca G, Von Spiczak S, Helbig I, Gill D, Yendle S, Møller RS, Klitten L, Korff C, Godfraind C, Van Rijckevorsel K, De Jonghe P, Hjalgrim H, Scheffer IE, Suls A. Weckhuysen S, et al. Among authors: suls a. Epilepsia. 2013 May;54(5):e74-80. doi: 10.1111/epi.12124. Epub 2013 Feb 14. Epilepsia. 2013. PMID: 23409955 Free article.
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
Weckhuysen S, Ivanovic V, Hendrickx R, Van Coster R, Hjalgrim H, Møller RS, Grønborg S, Schoonjans AS, Ceulemans B, Heavin SB, Eltze C, Horvath R, Casara G, Pisano T, Giordano L, Rostasy K, Haberlandt E, Albrecht B, Bevot A, Benkel I, Syrbe S, Sheidley B, Guerrini R, Poduri A, Lemke JR, Mandelstam S, Scheffer I, Angriman M, Striano P, Marini C, Suls A, De Jonghe P; KCNQ2 Study Group. Weckhuysen S, et al. Among authors: suls a. Neurology. 2013 Nov 5;81(19):1697-703. doi: 10.1212/01.wnl.0000435296.72400.a1. Epub 2013 Oct 9. Neurology. 2013. PMID: 24107868 Free PMC article.
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.
Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, James VM, Pepler A, Steiner I, Hörtnagel K, Neidhardt J, Ruf S, Wolff M, Bartholdi D, Caraballo R, Platzer K, Suls A, De Jonghe P, Biskup S, Weckhuysen S. Lemke JR, et al. Among authors: suls a. Ann Neurol. 2014 Jan;75(1):147-54. doi: 10.1002/ana.24073. Epub 2014 Jan 2. Ann Neurol. 2014. PMID: 24272827 Free PMC article.
88 results