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261 results

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Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
Berkovic SF, Dibbens LM, Oshlack A, Silver JD, Katerelos M, Vears DF, Lüllmann-Rauch R, Blanz J, Zhang KW, Stankovich J, Kalnins RM, Dowling JP, Andermann E, Andermann F, Faldini E, D'Hooge R, Vadlamudi L, Macdonell RA, Hodgson BL, Bayly MA, Savige J, Mulley JC, Smyth GK, Power DA, Saftig P, Bahlo M. Berkovic SF, et al. Among authors: mulley jc. Am J Hum Genet. 2008 Mar;82(3):673-84. doi: 10.1016/j.ajhg.2007.12.019. Epub 2008 Feb 28. Am J Hum Genet. 2008. PMID: 18308289 Free PMC article.
Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12.
Berkovic SF, Serratosa JM, Phillips HA, Xiong L, Andermann E, Díaz-Otero F, Gómez-Garre P, Martín M, Fernández-Bullido Y, Andermann F, Lopes-Cendes I, Dubeau F, Desbiens R, Scheffer IE, Wallace RH, Mulley JC, Pandolfo M. Berkovic SF, et al. Among authors: mulley jc. Epilepsia. 2004 Sep;45(9):1054-60. doi: 10.1111/j.0013-9580.2004.30502.x. Epilepsia. 2004. PMID: 15329069 Free article.
Susceptibility genes for complex epilepsy.
Mulley JC, Scheffer IE, Harkin LA, Berkovic SF, Dibbens LM. Mulley JC, et al. Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:R243-9. doi: 10.1093/hmg/ddi355. Hum Mol Genet. 2005. PMID: 16244322 Review.
Gene expression analysis in absence epilepsy using a monozygotic twin design.
Helbig I, Matigian NA, Vadlamudi L, Lawrence KM, Bayly MA, Bain SM, Diyagama D, Scheffer IE, Mulley JC, Holloway AJ, Dibbens LM, Berkovic SF, Hayward NK. Helbig I, et al. Among authors: mulley jc. Epilepsia. 2008 Sep;49(9):1546-54. doi: 10.1111/j.1528-1167.2008.01630.x. Epub 2008 Apr 24. Epilepsia. 2008. PMID: 18435749 Free article.
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J. Corbett MA, et al. Among authors: mulley jc. Am J Hum Genet. 2010 Sep 10;87(3):371-5. doi: 10.1016/j.ajhg.2010.08.001. Am J Hum Genet. 2010. PMID: 20797691 Free PMC article.
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gécz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM. Heron SE, et al. Among authors: mulley jc. Am J Hum Genet. 2012 Jan 13;90(1):152-60. doi: 10.1016/j.ajhg.2011.12.003. Am J Hum Genet. 2012. PMID: 22243967 Free PMC article.
Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PM, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O'Brien TJ, Guerrero-López R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J, Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AM, Pandolfo M, Berkovic SF, Scheffer IE. Dibbens LM, et al. Among authors: mulley jc. Nat Genet. 2013 May;45(5):546-51. doi: 10.1038/ng.2599. Epub 2013 Mar 31. Nat Genet. 2013. PMID: 23542697
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24.
Phillips HA, Scheffer IE, Crossland KM, Bhatia KP, Fish DR, Marsden CD, Howell SJ, Stephenson JB, Tolmie J, Plazzi G, Eeg-Olofsson O, Singh R, Lopes-Cendes I, Andermann E, Andermann F, Berkovic SF, Mulley JC. Phillips HA, et al. Among authors: mulley jc. Am J Hum Genet. 1998 Oct;63(4):1108-16. doi: 10.1086/302047. Am J Hum Genet. 1998. PMID: 9758605 Free PMC article.
261 results