Guerrini R - Search Results

1

Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.

Guerrini R, Conti V, Mantegazza M, Balestrini S, Galanopoulou AS, Benfenati F. Guerrini R, et al. Physiol Rev. 2023 Jan 1;103(1):433-513. doi: 10.1152/physrev.00063.2021. Epub 2022 Aug 11. Physiol Rev. 2023. PMID: 35951482 Free PMC article. Review.

2

Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms.

Conti V, Marini C, Mei D, Falchi M, Ferrari AR, Guerrini R. Conti V, et al. Among authors: guerrini r. Am J Med Genet A. 2011 Jan;155A(1):164-7. doi: 10.1002/ajmg.a.33753. Epub 2010 Dec 10. Am J Med Genet A. 2011. PMID: 21204226

3

Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.

Conti V, Marini C, Gana S, Sudi J, Dobyns WB, Guerrini R. Conti V, et al. Among authors: guerrini r. Am J Med Genet A. 2011 Apr;155A(4):892-7. doi: 10.1002/ajmg.a.33923. Epub 2011 Mar 17. Am J Med Genet A. 2011. PMID: 21416597

4

Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.

Guerrini R, Parrini E. Guerrini R, et al. Epilepsia. 2012 Dec;53(12):2067-78. doi: 10.1111/j.1528-1167.2012.03656.x. Epub 2012 Sep 21. Epilepsia. 2012. PMID: 22998673 Free article. Review.

5

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.

Marini C, Conti V, Mei D, Battaglia D, Lettori D, Losito E, Bruccini G, Tortorella G, Guerrini R. Marini C, et al. Among authors: guerrini r. Neurology. 2012 Nov 20;79(21):2109-14. doi: 10.1212/WNL.0b013e3182752ca2. Epub 2012 Oct 17. Neurology. 2012. PMID: 23077026 Free PMC article.

6

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.

Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R. Conti V, et al. Among authors: guerrini r. Brain. 2013 Nov;136(Pt 11):3378-94. doi: 10.1093/brain/awt249. Epub 2013 Sep 20. Brain. 2013. PMID: 24056535

7

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.

Marchese M, Conti V, Valvo G, Moro F, Muratori F, Tancredi R, Santorelli FM, Guerrini R, Sicca F. Marchese M, et al. Among authors: guerrini r. BMC Med Genet. 2014 Feb 27;15:26. doi: 10.1186/1471-2350-15-26. BMC Med Genet. 2014. PMID: 24580998 Free PMC article.

8

Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models.

Guerrini R, Marini C, Mantegazza M. Guerrini R, et al. Neurotherapeutics. 2014 Apr;11(2):269-85. doi: 10.1007/s13311-014-0267-0. Neurotherapeutics. 2014. PMID: 24664660 Free PMC article. Review.

9

Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene.

Conti V, Pantaleo M, Barba C, Baroni G, Mei D, Buccoliero AM, Giglio S, Giordano F, Baek ST, Gleeson JG, Guerrini R. Conti V, et al. Among authors: guerrini r. Clin Genet. 2015 Sep;88(3):241-7. doi: 10.1111/cge.12476. Epub 2014 Oct 7. Clin Genet. 2015. PMID: 25091978

10

Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.

Mei D, Darra F, Barba C, Marini C, Fontana E, Chiti L, Parrini E, Dalla Bernardina B, Guerrini R. Mei D, et al. Among authors: guerrini r. Epilepsia. 2014 Nov;55(11):1748-53. doi: 10.1111/epi.12803. Epub 2014 Sep 29. Epilepsia. 2014. PMID: 25266480 Free article.

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