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Page 1
Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.
Harris RV, Oliver KL, Perucca P, Striano P, Labate A, Riva A, Grinton BE, Reid J, Hutton J, Todaro M, O'Brien TJ, Kwan P, Sadleir LG, Mullen SA, Dazzo E, Crompton DE, Scheffer IE, Bahlo M, Nobile C, Gambardella A, Berkovic SF. Harris RV, et al. Among authors: mullen sa. Ann Neurol. 2023 Nov;94(5):825-835. doi: 10.1002/ana.26765. Epub 2023 Aug 31. Ann Neurol. 2023. PMID: 37597255 Free PMC article.
Epileptiform EEG abnormalities in children with language regression.
Scheffer IE, Parry-Fielder B, Mullen SA, Saunders K. Scheffer IE, et al. Among authors: mullen sa. Neurology. 2006 Oct 24;67(8):1527; author reply 1527. doi: 10.1212/01.wnl.0000248099.14144.c3. Neurology. 2006. PMID: 17060605 No abstract available.
A neurologist's guide to genome-wide association studies.
Mullen SA, Crompton DE, Carney PW, Helbig I, Berkovic SF. Mullen SA, et al. Neurology. 2009 Feb 10;72(6):558-65. doi: 10.1212/01.wnl.0000341942.29513.bd. Neurology. 2009. PMID: 19204266 Review.
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.
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.
Suls A, Mullen SA, Weber YG, Verhaert K, Ceulemans B, Guerrini R, Wuttke TV, Salvo-Vargas A, Deprez L, Claes LR, Jordanova A, Berkovic SF, Lerche H, De Jonghe P, Scheffer IE. Suls A, et al. Among authors: mullen sa. Ann Neurol. 2009 Sep;66(3):415-9. doi: 10.1002/ana.21724. Ann Neurol. 2009. PMID: 19798636
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF. Arsov T, et al. Am J Hum Genet. 2011 May 13;88(5):566-73. doi: 10.1016/j.ajhg.2011.04.004. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549341 Free PMC article.
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.
Arsov T, Mullen SA, Damiano JA, Lawrence KM, Huh LL, Nolan M, Young H, Thouin A, Dahl HH, Berkovic SF, Crompton DE, Sadleir LG, Scheffer IE. Arsov T, et al. Among authors: mullen sa. Epilepsia. 2012 Dec;53(12):e204-7. doi: 10.1111/epi.12007. Epub 2012 Oct 25. Epilepsia. 2012. PMID: 23106342 Free article.
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