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Page 1
Defining the phenotypic spectrum of SLC6A1 mutations.
Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL 2nd, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS. Johannesen KM, et al. Among authors: moller rs. Epilepsia. 2018 Feb;59(2):389-402. doi: 10.1111/epi.13986. Epub 2018 Jan 8. Epilepsia. 2018. PMID: 29315614 Free PMC article.
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z; EPICURE Consortium; Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF. Dibbens LM, et al. Hum Mol Genet. 2009 Oct 1;18(19):3626-31. doi: 10.1093/hmg/ddp311. Epub 2009 Jul 10. Hum Mol Genet. 2009. PMID: 19592580 Free PMC article.
NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy.
Svenstrup K, Møller RS, Christensen J, Budtz-Jørgensen E, Gilling M, Nielsen JE. Svenstrup K, et al. Among authors: moller rs. Eur J Neurol. 2011 Sep;18(9):1197-9. doi: 10.1111/j.1468-1331.2011.03359.x. Epub 2011 Feb 22. Eur J Neurol. 2011. PMID: 21599812
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2 European Consortium; Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; EPICURE Consortium; EuroEPINOMICS Consortium; Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA. Reinthaler EM, et al. Hum Mol Genet. 2014 Nov 15;23(22):6069-80. doi: 10.1093/hmg/ddu306. Epub 2014 Jun 16. Hum Mol Genet. 2014. PMID: 24939913 Free article.
Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-convergence on axonal guidance.
Kaalund SS, Venø MT, Bak M, Møller RS, Laursen H, Madsen F, Broholm H, Quistorff B, Uldall P, Tommerup N, Kauppinen S, Sabers A, Fluiter K, Møller LB, Nossent AY, Silahtaroglu A, Kjems J, Aronica E, Tümer Z. Kaalund SS, et al. Among authors: moller lb, moller rs. Epilepsia. 2014 Dec;55(12):2017-27. doi: 10.1111/epi.12839. Epub 2014 Nov 19. Epilepsia. 2014. PMID: 25410734 Free article.
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. 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.
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.
Lal D, Ruppert AK, Trucks H, Schulz H, de Kovel CG, Kasteleijn-Nolst Trenité D, Sonsma AC, Koeleman BP, Lindhout D, Weber YG, Lerche H, Kapser C, Schankin CJ, Kunz WS, Surges R, Elger CE, Gaus V, Schmitz B, Helbig I, Muhle H, Stephani U, Klein KM, Rosenow F, Neubauer BA, Reinthaler EM, Zimprich F, Feucht M, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Lieb W, Franke A, Strauch K, Gieger C, Schurmann C, Schminke U, Nürnberg P; EPICURE Consortium; Sander T. Lal D, et al. Among authors: moller rs. PLoS Genet. 2015 May 7;11(5):e1005226. doi: 10.1371/journal.pgen.1005226. eCollection 2015 May. PLoS Genet. 2015. PMID: 25950944 Free PMC article.
Investigation of GRIN2A in common epilepsy phenotypes.
Lal D, Steinbrücker S, Schubert J, Sander T, Becker F, Weber Y, Lerche H, Thiele H, Krause R, Lehesjoki AE, Nürnberg P, Palotie A, Neubauer BA, Muhle H, Stephani U, Helbig I, Becker AJ, Schoch S, Hansen J, Dorn T, Hohl C, Lüscher N; Epicure consortium; EuroEPINOMICS-CoGIE consortium; von Spiczak S, Lemke JR. Lal D, et al. Epilepsy Res. 2015 Sep;115:95-9. doi: 10.1016/j.eplepsyres.2015.05.010. Epub 2015 Jun 2. Epilepsy Res. 2015. PMID: 26220384
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
Hardies K, de Kovel CG, Weckhuysen S, Asselbergh B, Geuens T, Deconinck T, Azmi A, May P, Brilstra E, Becker F, Barisic N, Craiu D, Braun KP, Lal D, Thiele H, Schubert J, Weber Y, van 't Slot R, Nürnberg P, Balling R, Timmerman V, Lerche H, Maudsley S, Helbig I, Suls A, Koeleman BP, De Jonghe P; autosomal recessive working group of the EuroEPINOMICS RES Consortium. Hardies K, et al. Brain. 2015 Nov;138(Pt 11):3238-50. doi: 10.1093/brain/awv263. Epub 2015 Sep 17. Brain. 2015. PMID: 26384929
291 results