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No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1.
Gennaro E, Malacarne M, Carbone I, Riggio MC, Bianchi A, Bonanni P, Boniver C, Dalla Bernardina B, De Marco P, Giordano L, Guerrini R, Santorum E, Sebastianelli R, Vecchi M, Veggiotti P, Vigevano F, Bricarelli FD, Zara F. Gennaro E, et al. Among authors: giordano l. Epilepsia. 1999 Dec;40(12):1799-803. doi: 10.1111/j.1528-1157.1999.tb01601.x. Epilepsia. 1999. PMID: 10612347 Free article.
Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity.
Malacarne M, Gennaro E, Madia F, Pozzi S, Vacca D, Barone B, dalla Bernardina B, Bianchi A, Bonanni P, De Marco P, Gambardella A, Giordano L, Lispi ML, Romeo A, Santorum E, Vanadia F, Vecchi M, Veggiotti P, Vigevano F, Viri F, Bricarelli FD, Zara F. Malacarne M, et al. Among authors: giordano l. Am J Hum Genet. 2001 Jun;68(6):1521-6. doi: 10.1086/320596. Epub 2001 Apr 20. Am J Hum Genet. 2001. PMID: 11326335 Free PMC article.
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.
Striano P, Mancardi MM, Biancheri R, Madia F, Gennaro E, Paravidino R, Beccaria F, Capovilla G, Dalla Bernardina B, Darra F, Elia M, Giordano L, Gobbi G, Granata T, Ragona F, Guerrini R, Marini C, Mei D, Longaretti F, Romeo A, Siri L, Specchio N, Vigevano F, Striano S, Tortora F, Rossi A, Minetti C, Dravet C, Gaggero R, Zara F. Striano P, et al. Among authors: giordano l. Epilepsia. 2007 Jun;48(6):1092-6. doi: 10.1111/j.1528-1167.2007.01020.x. Epub 2007 Mar 22. Epilepsia. 2007. PMID: 17381446 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: giordano l. 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.
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, Vanni N, Beccaria F, Capovilla G, Bianchi A, Caffi L, Cardilli V, Darra F, Bernardina BD, Fusco L, Gaggero R, Giordano L, Guerrini R, Incorpora G, Mastrangelo M, Spaccini L, Laverda AM, Vecchi M, Vanadia F, Veggiotti P, Viri M, Occhi G, Budetta M, Taglialatela M, Coviello DA, Vigevano F, Minetti C. Zara F, et al. Among authors: giordano l. Epilepsia. 2013 Mar;54(3):425-36. doi: 10.1111/epi.12089. Epub 2013 Jan 29. Epilepsia. 2013. PMID: 23360469 Free article.
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
Weckhuysen S, Ivanovic V, Hendrickx R, Van Coster R, Hjalgrim H, Møller RS, Grønborg S, Schoonjans AS, Ceulemans B, Heavin SB, Eltze C, Horvath R, Casara G, Pisano T, Giordano L, Rostasy K, Haberlandt E, Albrecht B, Bevot A, Benkel I, Syrbe S, Sheidley B, Guerrini R, Poduri A, Lemke JR, Mandelstam S, Scheffer I, Angriman M, Striano P, Marini C, Suls A, De Jonghe P; KCNQ2 Study Group. Weckhuysen S, et al. Among authors: giordano l. Neurology. 2013 Nov 5;81(19):1697-703. doi: 10.1212/01.wnl.0000435296.72400.a1. Epub 2013 Oct 9. Neurology. 2013. PMID: 24107868 Free PMC article.
The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.
Cellini E, Vignoli A, Pisano T, Falchi M, Molinaro A, Accorsi P, Bontacchio A, Pinelli L, Giordano L, Guerrini R; FOXG1 Syndrome Study Group. Cellini E, et al. Among authors: giordano l. Dev Med Child Neurol. 2016 Jan;58(1):93-7. doi: 10.1111/dmcn.12894. Epub 2015 Sep 6. Dev Med Child Neurol. 2016. PMID: 26344814 Free article.
931 results