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Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy.
D'Agostino D, Bertelli M, Gallo S, Cecchin S, Albiero E, Garofalo PG, Gambardella A, St Hilaire JM, Kwiecinski H, Andermann E, Pandolfo M. D'Agostino D, et al. Among authors: andermann e. Neurology. 2004 Oct 26;63(8):1500-2. doi: 10.1212/01.wnl.0000142093.94998.1a. Neurology. 2004. PMID: 15505175
Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3.
Hedera P, Blair MA, Andermann E, Andermann F, D'Agostino D, Taylor KA, Chahine L, Pandolfo M, Bradford Y, Haines JL, Abou-Khalil B. Hedera P, et al. Among authors: andermann e, andermann f. Neurology. 2007 Jun 12;68(24):2107-12. doi: 10.1212/01.wnl.0000261246.75977.89. Epub 2007 Mar 21. Neurology. 2007. PMID: 17377072
Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
Guerrini R, Moro F, Andermann E, Hughes E, D'Agostino D, Carrozzo R, Bernasconi A, Flinter F, Parmeggiani L, Volzone A, Parrini E, Mei D, Jarosz JM, Morris RG, Pratt P, Tortorella G, Dubeau F, Andermann F, Dobyns WB, Das S. Guerrini R, et al. Among authors: andermann e, andermann f. Ann Neurol. 2003 Jul;54(1):30-7. doi: 10.1002/ana.10588. Ann Neurol. 2003. PMID: 12838518
Benign mesial temporal lobe epilepsy.
Labate A, Gambardella A, Andermann E, Aguglia U, Cendes F, Berkovic SF, Andermann F. Labate A, et al. Among authors: andermann e, andermann f. Nat Rev Neurol. 2011 Apr;7(4):237-40. doi: 10.1038/nrneurol.2010.212. Epub 2011 Jan 25. Nat Rev Neurol. 2011. PMID: 21263461 Review.
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
Jansen AC, Sancak O, D'Agostino MD, Badhwar A, Roberts P, Gobbi G, Wilkinson R, Melanson D, Tampieri D, Koenekoop R, Gans M, Maat-Kievit A, Goedbloed M, van den Ouweland AMW, Nellist M, Pandolfo M, McQueen M, Sims K, Thiele EA, Dubeau F, Andermann F, Kwiatkowski DJ, Halley DJJ, Andermann E. Jansen AC, et al. Among authors: andermann e, andermann f. Ann Neurol. 2006 Nov;60(5):528-539. doi: 10.1002/ana.21037. Ann Neurol. 2006. PMID: 17120248
A new locus for familial temporal lobe epilepsy on chromosome 3q.
Chahine L, Abou-Khalil B, Siren A, Andermann F, Hedera P, Ge Q, Andermann E, Pandolfo M. Chahine L, et al. Among authors: andermann e, andermann f. Epilepsy Res. 2013 Oct;106(3):338-44. doi: 10.1016/j.eplepsyres.2013.07.007. Epub 2013 Aug 14. Epilepsy Res. 2013. PMID: 24021842
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM, Gambardella A, Labate A, Belcastro V, Castellotti B, Ozkara C, Zeman A, Rankin J, Mole SE, Aguglia U, Farrell M, Rajagopalan S, McDougall A, Brammah S, Andermann F, Andermann E, Dahl HM, Franceschetti S, Carpenter S. Berkovic SF, et al. Among authors: andermann e, andermann f. Brain. 2019 Jan 1;142(1):59-69. doi: 10.1093/brain/awy297. Brain. 2019. PMID: 30561534
243 results