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244 results

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Page 1
Sodium-channel defects in benign familial neonatal-infantile seizures.
Heron SE, Crossland KM, Andermann E, Phillips HA, Hall AJ, Bleasel A, Shevell M, Mercho S, Seni MH, Guiot MC, Mulley JC, Berkovic SF, Scheffer IE. Heron SE, et al. Among authors: andermann e. Lancet. 2002 Sep 14;360(9336):851-2. doi: 10.1016/S0140-6736(02)09968-3. Lancet. 2002. PMID: 12243921
The spectrum of SCN1A-related infantile epileptic encephalopathies.
Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, Sadleir LG, Andermann E, Gill D, Farrell K, Connolly M, Stanley T, Harbord M, Andermann F, Wang J, Batish SD, Jones JG, Seltzer WK, Gardner A; Infantile Epileptic Encephalopathy Referral Consortium; Sutherland G, Berkovic SF, Mulley JC, Scheffer IE. Harkin LA, et al. Among authors: andermann e, andermann f. Brain. 2007 Mar;130(Pt 3):843-52. doi: 10.1093/brain/awm002. Brain. 2007. PMID: 17347258
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.
Mulley JC, Hodgson B, McMahon JM, Iona X, Bellows S, Mullen SA, Farrell K, Mackay M, Sadleir L, Bleasel A, Gill D, Webster R, Wirrell EC, Harbord M, Sisodiya S, Andermann E, Kivity S, Berkovic SF, Scheffer IE, Dibbens LM. Mulley JC, et al. Among authors: andermann e. Epilepsia. 2013 Sep;54(9):e122-6. doi: 10.1111/epi.12323. Epub 2013 Jul 29. Epilepsia. 2013. PMID: 23895530 Free article.
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: andermann e, andermann f. Am J Hum Genet. 1998 Oct;63(4):1108-16. doi: 10.1086/302047. Am J Hum Genet. 1998. PMID: 9758605 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: andermann e, andermann f. Epilepsia. 2004 Sep;45(9):1054-60. doi: 10.1111/j.0013-9580.2004.30502.x. Epilepsia. 2004. PMID: 15329069 Free 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: andermann e. 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.
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: andermann e, andermann f. Nat Genet. 2013 May;45(5):546-51. doi: 10.1038/ng.2599. Epub 2013 Mar 31. Nat Genet. 2013. PMID: 23542697
Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder.
Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann F, Andermann E, Desbiens R, Cendes F, Manson JI, et al. Scheffer IE, et al. Among authors: andermann e, andermann f. Lancet. 1994 Feb 26;343(8896):515-7. doi: 10.1016/s0140-6736(94)91463-x. Lancet. 1994. PMID: 7906762 Review.
Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?
Singh R, Andermann E, Whitehouse WP, Harvey AS, Keene DL, Seni MH, Crossland KM, Andermann F, Berkovic SF, Scheffer IE. Singh R, et al. Among authors: andermann e, andermann f. Epilepsia. 2001 Jul;42(7):837-44. doi: 10.1046/j.1528-1157.2001.042007837.x. Epilepsia. 2001. PMID: 11488881 Free article.
244 results