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Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.
Leu C, Balestrini S, Maher B, Hernández-Hernández L, Gormley P, Hämäläinen E, Heggeli K, Schoeler N, Novy J, Willis J, Plagnol V, Ellis R, Reavey E, O'Regan M, Pickrell WO, Thomas RH, Chung SK, Delanty N, McMahon JM, Malone S, Sadleir LG, Berkovic SF, Nashef L, Zuberi SM, Rees MI, Cavalleri GL, Sander JW, Hughes E, Helen Cross J, Scheffer IE, Palotie A, Sisodiya SM. Leu C, et al. Among authors: mcmahon jm. EBioMedicine. 2015 Jul 10;2(9):1063-70. doi: 10.1016/j.ebiom.2015.07.005. eCollection 2015 Sep. EBioMedicine. 2015. PMID: 26501104 Free PMC article.
Do mutations in SCN1B cause Dravet syndrome?
Kim YO, Dibbens L, Marini C, Suls A, Chemaly N, Mei D, McMahon JM, Iona X, Berkovic SF, De Jonghe P, Guerrini R, Nabbout R, Scheffer IE. Kim YO, et al. Among authors: mcmahon jm. Epilepsy Res. 2013 Jan;103(1):97-100. doi: 10.1016/j.eplepsyres.2012.10.009. Epub 2012 Nov 20. Epilepsy Res. 2013. PMID: 23182416
Mortality in Dravet syndrome.
Cooper MS, Mcintosh A, Crompton DE, McMahon JM, Schneider A, Farrell K, Ganesan V, Gill D, Kivity S, Lerman-Sagie T, McLellan A, Pelekanos J, Ramesh V, Sadleir L, Wirrell E, Scheffer IE. Cooper MS, et al. Among authors: mcmahon jm. Epilepsy Res. 2016 Dec;128:43-47. doi: 10.1016/j.eplepsyres.2016.10.006. Epub 2016 Oct 26. Epilepsy Res. 2016. PMID: 27810515
Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations.
Carranza Rojo D, Harvey AS, Iona X, Dibbens LM, Damiano JA, Arsov T, Gill D, Freeman JL, Leventer RJ, Vincent A, Berkovic SF, McMahon JM, Scheffer IE. Carranza Rojo D, et al. Among authors: mcmahon jm. Epilepsy Res. 2012 Jun;100(1-2):194-8. doi: 10.1016/j.eplepsyres.2012.02.007. Epub 2012 Mar 3. Epilepsy Res. 2012. PMID: 22386634
Sleep problems in Dravet syndrome: a modifiable comorbidity.
Licheni SH, Mcmahon JM, Schneider AL, Davey MJ, Scheffer IE. Licheni SH, et al. Among authors: mcmahon jm. Dev Med Child Neurol. 2018 Feb;60(2):192-198. doi: 10.1111/dmcn.13601. Epub 2017 Nov 7. Dev Med Child Neurol. 2018. PMID: 29110313 Free article.
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.
Catarino CB, Liu JY, Liagkouras I, Gibbons VS, Labrum RW, Ellis R, Woodward C, Davis MB, Smith SJ, Cross JH, Appleton RE, Yendle SC, McMahon JM, Bellows ST, Jacques TS, Zuberi SM, Koepp MJ, Martinian L, Scheffer IE, Thom M, Sisodiya SM. Catarino CB, et al. Among authors: mcmahon jm. Brain. 2011 Oct;134(Pt 10):2982-3010. doi: 10.1093/brain/awr129. Epub 2011 Jun 29. Brain. 2011. PMID: 21719429 Free PMC article.
202 results