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202 results

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Page 1
Mutations in KCNT1 cause a spectrum of focal epilepsies.
Møller RS, Heron SE, Larsen LH, Lim CX, Ricos MG, Bayly MA, van Kempen MJ, Klinkenberg S, Andrews I, Kelley K, Ronen GM, Callen D, McMahon JM, Yendle SC, Carvill GL, Mefford HC, Nabbout R, Poduri A, Striano P, Baglietto MG, Zara F, Smith NJ, Pridmore C, Gardella E, Nikanorova M, Dahl HA, Gellert P, Scheffer IE, Gunning B, Kragh-Olsen B, Dibbens LM. Møller RS, et al. Among authors: mcmahon jm. Epilepsia. 2015 Sep;56(9):e114-20. doi: 10.1111/epi.13071. Epub 2015 Jun 30. Epilepsia. 2015. PMID: 26122718 Free PMC article.
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC. Marini C, et al. Among authors: mcmahon jm. Epilepsia. 2009 Jul;50(7):1670-8. doi: 10.1111/j.1528-1167.2009.02013.x. Epub 2009 Mar 12. Epilepsia. 2009. PMID: 19400878 Free article.
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
Howell KB, McMahon JM, Carvill GL, Tambunan D, Mackay MT, Rodriguez-Casero V, Webster R, Clark D, Freeman JL, Calvert S, Olson HE, Mandelstam S, Poduri A, Mefford HC, Harvey AS, Scheffer IE. Howell KB, et al. Among authors: mcmahon jm. Neurology. 2015 Sep 15;85(11):958-66. doi: 10.1212/WNL.0000000000001926. Epub 2015 Aug 19. Neurology. 2015. PMID: 26291284 Free PMC article.
Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.
Marini C, Scheffer IE, Crossland KM, Grinton BE, Phillips FL, McMahon JM, Turner SJ, Dean JT, Kivity S, Mazarib A, Neufeld MY, Korczyn AD, Harkin LA, Dibbens LM, Wallace RH, Mulley JC, Berkovic SF. Marini C, et al. Among authors: mcmahon jm. Epilepsia. 2004 May;45(5):467-78. doi: 10.1111/j.0013-9580.2004.46803.x. Epilepsia. 2004. PMID: 15101828 Free article.
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
Vadlamudi L, Dibbens LM, Lawrence KM, Iona X, McMahon JM, Murrell W, Mackay-Sim A, Scheffer IE, Berkovic SF. Vadlamudi L, et al. Among authors: mcmahon jm. N Engl J Med. 2010 Sep 30;363(14):1335-40. doi: 10.1056/NEJMoa0910752. N Engl J Med. 2010. PMID: 20879882 Free article.
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
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
202 results