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Items: 1 to 50 of 55

1.

What is the role of next generation sequencing in status epilepticus?

Guerrini R, Parrini E, Marini C, Mei D.

Epilepsy Behav. 2019 Jul 9. pii: S1525-5050(19)30491-3. doi: 10.1016/j.yebeh.2019.06.017. [Epub ahead of print] Review.

PMID:
31300382
2.

TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.

Lüthy K, Mei D, Fischer B, De Fusco M, Swerts J, Paesmans J, Parrini E, Lubarr N, Meijer IA, Mackenzie KM, Lee WT, Cittaro D, Aridon P, Schoovaerts N, Versées W, Verstreken P, Casari G, Guerrini R.

Brain. 2019 Aug 1;142(8):2319-2335. doi: 10.1093/brain/awz175.

PMID:
31257402
3.

Severe presentation and complex brain malformations in an individual carrying a CCND2 variant.

Cappuccio G, Ugga L, Parrini E, D'Amico A, Brunetti-Pierri N.

Mol Genet Genomic Med. 2019 Jun;7(6):e708. doi: 10.1002/mgg3.708. Epub 2019 May 6.

4.

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.

Cellini E, Vetro A, Conti V, Marini C, Doccini V, Clementella C, Parrini E, Giglio S, Della Monica M, Fichera M, Musumeci SA, Guerrini R.

Eur J Hum Genet. 2019 Jun;27(6):909-918. doi: 10.1038/s41431-019-0335-3. Epub 2019 Jan 25.

PMID:
30683929
5.

Diaper changing-induced reflex seizures in CDKL5-related epilepsy.

Solazzi R, Fiorini E, Parrini E, Darra F, Dalla Bernardina B, Cantalupo G.

Epileptic Disord. 2018 Oct 1;20(5):428-433. doi: 10.1684/epd.2018.0999.

PMID:
30378547
6.

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C.

Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263.

7.

PRICKLE1-related early onset epileptic encephalopathy.

Mastrangelo M, Tolve M, Martinelli M, Di Noia SP, Parrini E, Leuzzi V.

Am J Med Genet A. 2018 Dec;176(12):2841-2845. doi: 10.1002/ajmg.a.40625. Epub 2018 Oct 22.

PMID:
30345727
8.

Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation.

De Vita D, Mei D, Rutigliano D, Bartalucci N, Cinnante CM, Parrini E, Dilena R, Guerrini R.

Am J Med Genet A. 2018 Dec;176(12):2808-2812. doi: 10.1002/ajmg.a.40503. Epub 2018 Aug 25.

PMID:
30144370
9.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS; University of Washington Center for Mendelian Genomics, Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB.

Genet Med. 2018 Nov;20(11):1354-1364. doi: 10.1038/gim.2018.8. Epub 2018 Apr 19.

10.

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.

Stagnaro M, Pisciotta L, Gherzi M, Di Rocco M, Gurrieri F, Parrini E, Prato G, Veneselli E, De Grandis E.

Eur J Paediatr Neurol. 2018 Mar;22(2):264-271. doi: 10.1016/j.ejpn.2018.01.010. Epub 2018 Jan 31.

PMID:
29396171
11.

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.

Conti V, Carabalona A, Pallesi-Pocachard E, Leventer RJ, Schaller F, Parrini E, Deparis AA, Watrin F, Buhler E, Novara F, Lise S, Pagnamenta AT, Kini U, Taylor JC, Zuffardi O, Represa A, Keays DA, Guerrini R, Falace A, Cardoso C.

J Vis Exp. 2017 Dec 1;(130). doi: 10.3791/53570.

PMID:
29286390
12.

Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia.

Perna A, Masciullo M, Modoni A, Cellini E, Parrini E, Ricci E, Donati AM, Silvestri G.

Eur J Neurol. 2018 Mar;25(3):602-605. doi: 10.1111/ene.13557. Epub 2018 Jan 30.

PMID:
29284203
13.

Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

Marini C, Romoli M, Parrini E, Costa C, Mei D, Mari F, Parmeggiani L, Procopio E, Metitieri T, Cellini E, Virdò S, De Vita D, Gentile M, Prontera P, Calabresi P, Guerrini R.

Neurol Genet. 2017 Dec 11;3(6):e206. doi: 10.1212/NXG.0000000000000206. eCollection 2017 Dec.

14.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Møller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR, Kutsche K, Guerrini R.

Brain. 2017 Sep 1;140(9):2322-2336. doi: 10.1093/brain/awx195.

15.

Lissencephaly: Expanded imaging and clinical classification.

Di Donato N, Chiari S, Mirzaa GM, Aldinger K, Parrini E, Olds C, Barkovich AJ, Guerrini R, Dobyns WB.

Am J Med Genet A. 2017 Jun;173(6):1473-1488. doi: 10.1002/ajmg.a.38245. Epub 2017 Apr 25.

16.

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Danti FR, Galosi S, Romani M, Montomoli M, Carss KJ, Raymond FL, Parrini E, Bianchini C, McShane T, Dale RC, Mohammad SS, Shah U, Mahant N, Ng J, McTague A, Samanta R, Vadlamani G, Valente EM, Leuzzi V, Kurian MA, Guerrini R.

Neurol Genet. 2017 Mar 21;3(2):e143. doi: 10.1212/NXG.0000000000000143. eCollection 2017 Apr.

17.

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.

Cetica V, Chiari S, Mei D, Parrini E, Grisotto L, Marini C, Pucatti D, Ferrari A, Sicca F, Specchio N, Trivisano M, Battaglia D, Contaldo I, Zamponi N, Petrelli C, Granata T, Ragona F, Avanzini G, Guerrini R.

Neurology. 2017 Mar 14;88(11):1037-1044. doi: 10.1212/WNL.0000000000003716. Epub 2017 Feb 15.

18.

The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.

Mei D, Parrini E, Marini C, Guerrini R.

Mol Diagn Ther. 2017 Aug;21(4):357-373. doi: 10.1007/s40291-017-0257-0. Review.

PMID:
28197949
19.

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

Parrini E, Marini C, Mei D, Galuppi A, Cellini E, Pucatti D, Chiti L, Rutigliano D, Bianchini C, Virdò S, De Vita D, Bigoni S, Barba C, Mari F, Montomoli M, Pisano T, Rosati A; Clinical Study Group, Guerrini R.

Hum Mutat. 2017 Feb;38(2):216-225. doi: 10.1002/humu.23149. Epub 2016 Dec 9.

PMID:
27864847
20.

Genetic Basis of Brain Malformations.

Parrini E, Conti V, Dobyns WB, Guerrini R.

Mol Syndromol. 2016 Sep;7(4):220-233. Epub 2016 Aug 27. Review.

21.

The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS.

Bartolini E, Falchi M, Zellini F, Parrini E, Grisotto L, Cosottini M, Posar A, Parmeggiani A, Ambrosetto G, Ferrari AR, Santucci M, Salas-Puig J, Barba C, Guerrini R.

Neurology. 2016 Mar 29;86(13):1250-9. doi: 10.1212/WNL.0000000000002526. Epub 2016 Mar 4.

PMID:
26944271
22.

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

Mirzaa GM, Conti V, Timms AE, Smyser CD, Ahmed S, Carter M, Barnett S, Hufnagel RB, Goldstein A, Narumi-Kishimoto Y, Olds C, Collins S, Johnston K, Deleuze JF, Nitschké P, Friend K, Harris C, Goetsch A, Martin B, Boyle EA, Parrini E, Mei D, Tattini L, Slavotinek A, Blair E, Barnett C, Shendure J, Chelly J, Dobyns WB, Guerrini R.

Lancet Neurol. 2015 Dec;14(12):1182-95. doi: 10.1016/S1474-4422(15)00278-1. Epub 2015 Oct 29.

23.

Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.

Parrini E, Mei D, Pisanti MA, Catarzi S, Pucatti D, Bianchini C, Mascalchi M, Bertini E, Morrone A, Cavaliere ML, Guerrini R.

J Med Genet. 2015 Jun;52(6):405-12. doi: 10.1136/jmedgenet-2014-102959. Epub 2015 Mar 9.

PMID:
25755106
24.

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.

Epilepsia. 2014 Nov;55(11):1748-53. doi: 10.1111/epi.12803. Epub 2014 Sep 29.

25.

Periventricular nodular heterotopia in Smith-Magenis syndrome.

Capra V, Biancheri R, Morana G, Striano P, Novara F, Ferrero GB, Boeri L, Celle ME, Mancardi MM, Zuffardi O, Parrini E, Guerrini R.

Am J Med Genet A. 2014 Dec;164A(12):3142-7. doi: 10.1002/ajmg.a.36742. Epub 2014 Sep 24.

PMID:
25257626
26.

Somatic mutations in cerebral cortical malformations.

Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA.

N Engl J Med. 2014 Aug 21;371(8):733-43. doi: 10.1056/NEJMoa1314432.

27.

Co-occurring malformations of cortical development and SCN1A gene mutations.

Barba C, Parrini E, Coras R, Galuppi A, Craiu D, Kluger G, Parmeggiani A, Pieper T, Schmitt-Mechelke T, Striano P, Giordano F, Blumcke I, Guerrini R.

Epilepsia. 2014 Jul;55(7):1009-19. doi: 10.1111/epi.12658. Epub 2014 Jun 5.

28.

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.

Brain. 2013 Nov;136(Pt 11):3378-94. doi: 10.1093/brain/awt249. Epub 2013 Sep 20.

PMID:
24056535
29.

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Geneviève D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J.

Nat Genet. 2013 Jun;45(6):639-47. doi: 10.1038/ng.2613. Epub 2013 Apr 21. Erratum in: Nat Genet. 2013 Aug;45(8):962.

30.

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

Guerrini R, Parrini E.

Epilepsia. 2012 Dec;53(12):2067-78. doi: 10.1111/j.1528-1167.2012.03656.x. Epub 2012 Sep 21. Review.

31.

Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.

Pisano T, Barkovich AJ, Leventer RJ, Squier W, Scheffer IE, Parrini E, Blaser S, Marini C, Robertson S, Tortorella G, Rosenow F, Thomas P, McGillivray G, Andermann E, Andermann F, Berkovic SF, Dobyns WB, Guerrini R.

Neurology. 2012 Sep 18;79(12):1244-51. doi: 10.1212/WNL.0b013e31826aac88. Epub 2012 Aug 22.

32.

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.

Guerrini R, Mei D, Cordelli DM, Pucatti D, Franzoni E, Parrini E.

Eur J Hum Genet. 2012 Sep;20(9):995-8. doi: 10.1038/ejhg.2012.21. Epub 2012 Feb 15.

33.

FLNA genomic rearrangements cause periventricular nodular heterotopia.

Clapham KR, Yu TW, Ganesh VS, Barry B, Chan Y, Mei D, Parrini E, Funalot B, Dupuis L, Nezarati MM, du Souich C, van Karnebeek C, Guerrini R, Walsh CA.

Neurology. 2012 Jan 24;78(4):269-78. doi: 10.1212/WNL.0b013e31824365e4. Epub 2012 Jan 11.

34.

In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.

Parrini E, Rivas IL, Toral JF, Pucatti D, Giglio S, Mei D, Guerrini R.

Am J Med Genet A. 2011 May;155A(5):1140-6. doi: 10.1002/ajmg.a.33880. Epub 2011 Apr 11.

PMID:
21484998
35.

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.

Mei D, Marini C, Novara F, Bernardina BD, Granata T, Fontana E, Parrini E, Ferrari AR, Murgia A, Zuffardi O, Guerrini R.

Epilepsia. 2010 Apr;51(4):647-54. doi: 10.1111/j.1528-1167.2009.02308.x. Epub 2009 Sep 22.

36.

Neuronal migration disorders.

Guerrini R, Parrini E.

Neurobiol Dis. 2010 May;38(2):154-66. doi: 10.1016/j.nbd.2009.02.008. Epub 2009 Feb 23. Review.

PMID:
19245832
37.

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.

Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, Moncla A, Scheffer IE, Guerrini R.

Neurology. 2009 Mar 3;72(9):784-92. doi: 10.1212/01.wnl.0000336339.08878.2d. Epub 2008 Dec 10.

PMID:
19073947
38.

Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.

Parrini E, Ferrari AR, Dorn T, Walsh CA, Guerrini R.

Epilepsia. 2009 Jun;50(6):1344-53. doi: 10.1111/j.1528-1167.2008.01787.x. Epub 2008 Oct 6.

39.

High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis.

Mei D, Lewis R, Parrini E, Lazarou LP, Marini C, Pilz DT, Guerrini R.

J Med Genet. 2008 Jun;45(6):355-61. doi: 10.1136/jmg.2007.056507. Epub 2008 Feb 19.

PMID:
18285425
40.

Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia.

Mei D, Parrini E, Pasqualetti M, Tortorella G, Franzoni E, Giussani U, Marini C, Migliarini S, Guerrini R.

Neurology. 2007 Feb 6;68(6):446-50.

PMID:
17283321
41.

Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree.

Gardella E, Tinuper P, Marini C, Guerrini R, Parrini E, Bisulli F, Liguori R, Montagna P, Lugaresi E.

Epilepsia. 2006 Oct;47(10):1643-9.

42.

Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear.

Aridon P, Marini C, Di Resta C, Brilli E, De Fusco M, Politi F, Parrini E, Manfredi I, Pisano T, Pruna D, Curia G, Cianchetti C, Pasqualetti M, Becchetti A, Guerrini R, Casari G.

Am J Hum Genet. 2006 Aug;79(2):342-50. Epub 2006 Jun 26.

43.

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.

Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R.

Brain. 2006 Jul;129(Pt 7):1892-906. Epub 2006 May 9.

PMID:
16684786
44.

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA.

Neurology. 2005 Jan 25;64(2):254-62.

PMID:
15668422
45.

Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia.

Parrini E, Mei D, Wright M, Dorn T, Guerrini R.

Neurogenetics. 2004 Sep;5(3):191-6. Epub 2004 Jul 28.

PMID:
15459826
46.

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.

Guerrini R, Mei D, Sisodiya S, Sicca F, Harding B, Takahashi Y, Dorn T, Yoshida A, Campistol J, Krämer G, Moro F, Dobyns WB, Parrini E.

Neurology. 2004 Jul 13;63(1):51-6.

PMID:
15249610
47.

Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.

Bonanni P, Malcarne M, Moro F, Veggiotti P, Buti D, Ferrari AR, Parrini E, Mei D, Volzone A, Zara F, Heron SE, Bordo L, Marini C, Guerrini R.

Epilepsia. 2004 Feb;45(2):149-58.

48.
49.

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.

Ann Neurol. 2003 Jul;54(1):30-7.

PMID:
12838518
50.

Subcortical band heterotopia with simplified gyral pattern and syndactyly.

Sicca F, Silengo M, Parrini E, Ferrero GB, Guerrini R.

Am J Med Genet A. 2003 Jun 1;119A(2):207-10.

PMID:
12749065

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