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Cerebellar dentate nuclei swelling: a new and early magnetic resonance imaging finding of beta-propeller protein–associated neurodegeneration.
Published in:
2021
By:
- D'Amico, Alessandra;
- Romano, Alfonso;
- Parrini, Elena;
- Ugga, Lorenzo;
- Terrone, Gaetano
Publication type:
Letter
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Published in:
Brain: A Journal of Neurology, 2022, v. 145, n. 9, p. 3274, doi. 10.1093/brain/awac164
By:
- Donato, Nataliya Di;
- Guerrini, Renzo;
- Billington, Charles J;
- Barkovich, A James;
- Dinkel, Philine;
- Freri, Elena;
- Heide, Michael;
- Gershon, Elliot S;
- Gertler, Tracy S;
- Hopkin, Robert J;
- Jacob, Suma;
- Keedy, Sarah K;
- Kooshavar, Daniz;
- Lockhart, Paul J;
- Lohmann, Dietmar R;
- Mahmoud, Iman G;
- Parrini, Elena;
- Schrock, Evelin;
- Severi, Giulia;
- Timms, Andrew E
Publication type:
Article
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Published in:
2021
By:
- Vetro, Annalisa;
- Nielsen, Hang N;
- Holm, Rikke;
- Hevner, Robert F;
- Parrini, Elena;
- Powis, Zoe;
- Møller, Rikke S;
- Bellan, Cristina;
- Simonati, Alessandro;
- Lesca, Gaétan;
- Helbig, Katherine L;
- Palmer, Elizabeth E;
- Mei, Davide;
- Ballardini, Elisa;
- Haeringen, Arie Van;
- Syrbe, Steffen;
- Leuzzi, Vincenzo;
- Cioni, Giovanni;
- Curry, Cynthia J;
- Costain, Gregory
Publication type:
journal article
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.
Published in:
2019
By:
- Lüthy, Kevin;
- Mei, Davide;
- Fischer, Baptiste;
- Fusco, Maurizio De;
- Swerts, Jef;
- Paesmans, Jone;
- Parrini, Elena;
- Lubarr, Naomi;
- Meijer, Inge A;
- Mackenzie, Katherine M;
- Lee, Wang-Tso;
- Cittaro, Davide;
- Aridon, Paolo;
- Schoovaerts, Nils;
- Versées, Wim;
- Verstreken, Patrik;
- Casari, Giorgio;
- Guerrini, Renzo;
- De Fusco, Maurizio
Publication type:
journal article
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Published in:
2018
By:
- Marini, Carla;
- Porro, Alessandro;
- Rastetter, Agnès;
- Dalle, Carine;
- Rivolta, Ilaria;
- Bauer, Daniel;
- Oegema, Renske;
- Nava, Caroline;
- Parrini, Elena;
- Mei, Davide;
- Mercer, Catherine;
- Dhamija, Radhika;
- Chambers, Chelsea;
- Coubes, Christine;
- Thévenon, Julien;
- Kuentz, Paul;
- Julia, Sophie;
- Pasquier, Laurent;
- Dubourg, Christèle;
- Carré, Wilfrid
Publication type:
journal article
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Published in:
2017
By:
- Syrbe, Steffen;
- Harms, Frederike L.;
- Parrini, Elena;
- Montomoli, Martino;
- Mütze, Ulrike;
- Helbig, Katherine L.;
- Polster, Tilman;
- Albrecht, Beate;
- Bernbeck, Ulrich;
- van Binsbergen, Ellen;
- Biskup, Saskia;
- Burglen, Lydie;
- Denecke, Jonas;
- Heron, Bénédicte;
- Heyne, Henrike O.;
- Hoffmann, Georg F.;
- Hornemann, Frauke;
- Takeshi Matsushige;
- Ryuki Matsuura;
- Mitsuhiro Kato
Publication type:
journal article
Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.
Published in:
Epilepsia (Series 4), 2014, v. 55, n. 11, p. 1748, doi. 10.1111/epi.12803
By:
- Mei, Davide;
- Darra, Francesca;
- Barba, Carmen;
- Marini, Carla;
- Fontana, Elena;
- Chiti, Laura;
- Parrini, Elena;
- Dalla Bernardina, Bernardo;
- Guerrini, Renzo
Publication type:
Article
Co-occurring malformations of cortical development and SCN1A gene mutations.
Published in:
Epilepsia (Series 4), 2014, v. 55, n. 7, p. 1009, doi. 10.1111/epi.12658
By:
- Barba, Carmen;
- Parrini, Elena;
- Coras, Roland;
- Galuppi, Anna;
- Craiu, Dana;
- Kluger, Gerhard;
- Parmeggiani, Antonia;
- Pieper, Tom;
- Schmitt‐Mechelke, Thomas;
- Striano, Pasquale;
- Giordano, Flavio;
- Blumcke, Ingmar;
- Guerrini, Renzo
Publication type:
Article
Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.
Published in:
Epilepsia (Series 4), 2012, v. 53, n. 12, p. 2067, doi. 10.1111/j.1528-1167.2012.03656.x
By:
- Guerrini, Renzo;
- Parrini, Elena
Publication type:
Article
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.
Published in:
Epilepsia (Series 4), 2010, v. 51, n. 4, p. 647, doi. 10.1111/j.1528-1167.2009.02308.x
By:
- Mei, Davide;
- Marini, Carla;
- Novara, Francesca;
- Bernardina, Bernardo D.;
- Granata, Tiziana;
- Fontana, Elena;
- Parrini, Elena;
- Ferrari, Anna R.;
- Murgia, Alessandra;
- Zuffardi, Orsetta;
- Guerrini, Renzo
Publication type:
Article
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.
Published in:
Epilepsia (Series 4), 2009, v. 50, n. 6, p. 1344, doi. 10.1111/j.1528-1167.2008.01787.x
By:
- Parrini, Elena;
- Ferrari, Anna Rita;
- Dorn, Thomas;
- Walsh, Christopher A.;
- Guerrini, Renzo
Publication type:
Article
Autosomal Dominant Early-onset Cortical Myoclonus, Photic-induced Myoclonus, and Epilepsy in a Large Pedigree.
Published in:
Epilepsia (Series 4), 2006, v. 47, n. 10, p. 1643, doi. 10.1111/j.1528-1167.2006.00636.x
By:
- Gardella, Elena;
- Tinuper, Paolo;
- Marini, Carla;
- Guerrini, Renzo;
- Parrini, Elena;
- Bisulli, Francesca;
- Liguori, Rocco;
- Montagna, Pasquale;
- Lugaresi, Elio
Publication type:
Article
Generalized Epilepsy with Febrile Seizures Plus (GEFS<sup>+</sup>): Clinical Spectrum in Seven Italian Families Unrelated to SCN1A, SCN1B, and GABRG2 Gene Mutations.
Published in:
Epilepsia (Series 4), 2004, v. 45, n. 2, p. 149, doi. 10.1111/j.0013-9580.2004.04303.x
By:
- Bonanni, Paolo;
- Malcarne, Michela;
- Moro, Francesca;
- Veggiotti, Pierangelo;
- Buti, Daniela;
- Ferrari, Anna Rita;
- Parrini, Elena;
- Mei, Davide;
- Volzone, Anna;
- Zara, Federico;
- Heron, Sarah E.;
- Bordo, Laura;
- Marini, Carla;
- Guerrini, Renzo
Publication type:
Article
Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 522, doi. 10.1002/ajmg.a.62548
By:
- De Maria, Beatrice;
- Balestrini, Simona;
- Mei, Davide;
- Melani, Federico;
- Pellacani, Simona;
- Pisano, Tiziana;
- Rosati, Anna;
- Scaturro, Giusi M.;
- Giordano, Lucio;
- Cantalupo, Gaetano;
- Fontana, Elena;
- Zammarchi, Cristina;
- Said, Edith;
- Leuzzi, Vincenzo;
- Mastrangelo, Mario;
- Galosi, Serena;
- Parrini, Elena;
- Guerrini, Renzo
Publication type:
Article
The spectrum of brain malformations and disruptions in twins.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2690, doi. 10.1002/ajmg.a.61972
By:
- Park, Kaylee B.;
- Chapman, Teresa;
- Aldinger, Kimberly A.;
- Mirzaa, Ghayda M.;
- Zeiger, Jordan;
- Beck, Anita;
- Glass, Ian A.;
- Hevner, Robert F.;
- Jansen, Anna C.;
- Marshall, Desiree A.;
- Oegema, Renske;
- Parrini, Elena;
- Saneto, Russell P.;
- Curry, Cynthia J.;
- Hall, Judith G.;
- Guerrini, Renzo;
- Leventer, Richard J.;
- Dobyns, William B.
Publication type:
Article
Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2526, doi. 10.1002/ajmg.a.62345
By:
- Brunetti, Sara;
- Malerba, Laura;
- Giordano, Lucio;
- Parrini, Elena;
- Guerrini, Renzo;
- Palumbo, Giovanni;
- Parazzini, Cecilia;
- Bestetti, Ilaria;
- Accorsi, Patrizia
Publication type:
Article
Long‐term follow‐up of an individual with ITPR1‐related disorder.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1846, doi. 10.1002/ajmg.a.61609
By:
- Cappuccio, Gerarda;
- Apuzzo, Diletta;
- Passalacqua, Paola;
- Parrini, Elena;
- D'Amico, Alessandra;
- Montini, Tommaso;
- Brunetti‐Pierri, Nicola
Publication type:
Article
PRICKLE1‐related early onset epileptic encephalopathy.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2841, doi. 10.1002/ajmg.a.40625
By:
- Mastrangelo, Mario;
- Tolve, Manuela;
- Martinelli, Martina;
- Di Noia, Sofia P.;
- Parrini, Elena;
- Leuzzi, Vincenzo
Publication type:
Article
Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2808, doi. 10.1002/ajmg.a.40503
By:
- De Vita, Dalila;
- Mei, Davide;
- Rutigliano, Domenico;
- Bartalucci, Niccolò;
- Cinnante, Claudia Maria;
- Parrini, Elena;
- Dilena, Robertino;
- Guerrini, Renzo
Publication type:
Article
Lissencephaly: Expanded imaging and clinical classification.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1473, doi. 10.1002/ajmg.a.38245
By:
- Di Donato, Nataliya;
- Chiari, Sara;
- Mirzaa, Ghayda M.;
- Aldinger, Kimberly;
- Parrini, Elena;
- Olds, Carissa;
- Barkovich, A. James;
- Guerrini, Renzo;
- Dobyns, William B.
Publication type:
Article
Periventricular nodular heterotopia in Smith-Magenis syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3142, doi. 10.1002/ajmg.a.36742
By:
- Capra, Valeria;
- Biancheri, Roberta;
- Morana, Giovanni;
- Striano, Pasquale;
- Novara, Francesca;
- Ferrero, Giovanni Battista;
- Boeri, Luca;
- Celle, Maria ElENa;
- Mancardi, Maria Margherita;
- Zuffardi, Orsetta;
- Parrini, ElENa;
- Guerrini, RENzo
Publication type:
Article
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Published in:
Nature Genetics, 2013, v. 45, n. 8, p. 962, doi. 10.1038/ng0813-962b
By:
- Poirier, Karine;
- Lebrun, Nicolas;
- Broix, Loic;
- Tian, Guoling;
- Saillour, Yoann;
- Boscheron, Cécile;
- Parrini, Elena;
- Valence, Stephanie;
- Pierre, Benjamin Saint;
- Oger, Madison;
- Lacombe, Didier;
- Geneviève, David;
- Fontana, Elena;
- Darra, Franscesca;
- Cances, Claude;
- Barth, Magalie;
- Bonneau, Dominique;
- Bernadina, Bernardo Dalla;
- N'Guyen, Sylvie;
- Gitiaux, Cyril
Publication type:
Article
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Published in:
Nature Genetics, 2013, v. 45, n. 6, p. 639, doi. 10.1038/ng.2613
By:
- Poirier, Karine;
- Lebrun, Nicolas;
- Broix, Loic;
- Tian, Guoling;
- Saillour, Yoann;
- Boscheron, Cécile;
- Parrini, Elena;
- Valence, Stephanie;
- Pierre, Benjamin Saint;
- Oger, Madison;
- Lacombe, Didier;
- Geneviève, David;
- Fontana, Elena;
- Darra, Franscesca;
- Cances, Claude;
- Barth, Magalie;
- Bonneau, Dominique;
- Bernadina, Bernardo Dalla;
- N'Guyen, Sylvie;
- Gitiaux, Cyril
Publication type:
Article
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 9, p. 995, doi. 10.1038/ejhg.2012.21
By:
- Guerrini, Renzo;
- Mei, Davide;
- Cordelli, Duccio Maria;
- Pucatti, Daniela;
- Franzoni, Emilio;
- Parrini, Elena
Publication type:
Article
Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants.
Published in:
Epilepsia Open, 2024, v. 9, n. 1, p. 417, doi. 10.1002/epi4.12843
By:
- Panza, Norman;
- Bianchini, Claudia;
- Cetica, Valentina;
- Balestrini, Simona;
- Barba, Carmen;
- Ferrari, Anna Rita;
- Mei, Davide;
- Parmeggiani, Lucio;
- Parrini, Elena;
- Guerrini, Renzo
Publication type:
Article
Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66331-z
By:
- Iadarola, Barbara;
- Xumerle, Luciano;
- Lavezzari, Denise;
- Paterno, Marta;
- Marcolungo, Luca;
- Beltrami, Cristina;
- Fortunati, Elisabetta;
- Mei, Davide;
- Vetro, Annalisa;
- Guerrini, Renzo;
- Parrini, Elena;
- Rossato, Marzia;
- Delledonne, Massimo
Publication type:
Article
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 11, p. 3378, doi. 10.1093/brain/awt249
By:
- Conti, Valerio;
- Carabalona, Aurelie;
- Pallesi-Pocachard, Emilie;
- Parrini, Elena;
- Leventer, Richard J.;
- Buhler, Emmanuelle;
- McGillivray, George;
- Michel, François J.;
- Striano, Pasquale;
- Mei, Davide;
- Watrin, Françoise;
- Lise, Stefano;
- Pagnamenta, Alistair T.;
- Taylor, Jenny C.;
- Kini, Usha;
- Clayton-Smith, Jill;
- Novara, Francesca;
- Zuffardi, Orsetta;
- Dobyns, William B.;
- Scheffer, Ingrid E.
Publication type:
Article
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome.
Published in:
Epilepsia (Series 4), 2020, v. 61, n. 11, p. 2461, doi. 10.1111/epi.16679
By:
- Bar, Claire;
- Kuchenbuch, Mathieu;
- Barcia, Giulia;
- Schneider, Amy;
- Jennesson, Mélanie;
- Le Guyader, Gwenaël;
- Lesca, Gaetan;
- Mignot, Cyril;
- Montomoli, Martino;
- Parrini, Elena;
- Isnard, Hervé;
- Rolland, Anne;
- Keren, Boris;
- Afenjar, Alexandra;
- Dorison, Nathalie;
- Sadleir, Lynette G.;
- Breuillard, Delphine;
- Levy, Raphael;
- Rio, Marlène;
- Dupont, Sophie
Publication type:
Article
The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.
Published in:
Molecular Diagnosis & Therapy, 2017, v. 21, n. 4, p. 357, doi. 10.1007/s40291-017-0257-0
By:
- Mei, Davide;
- Parrini, Elena;
- Marini, Carla;
- Guerrini, Renzo
Publication type:
Article
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
Published in:
2020
By:
- Zaman, Tariq;
- Helbig, Katherine L.;
- Clatot, Jérôme;
- Thompson, Christopher H.;
- Kang, Seok Kyu;
- Stouffs, Katrien;
- Jansen, Anna E.;
- Verstraete, Lieve;
- Jacquinet, Adeline;
- Parrini, Elena;
- Guerrini, Renzo;
- Fujiwara, Yuh;
- Miyatake, Satoko;
- Ben‐Zeev, Bruria;
- Bassan, Haim;
- Reish, Orit;
- Marom, Daphna;
- Hauser, Natalie;
- Vu, Thuy‐Anh;
- Ackermann, Sally
Publication type:
journal article
Nonsyndromic mental retardation and cryptogenic epilepsy in women with Doublecortin gene mutations.
Published in:
Annals of Neurology, 2003, v. 54, n. 1, p. 30
By:
- Renzo Guerrini;
- Francesca Moro;
- Eva Andermann;
- Elaine Hughes;
- Daniela D'Agostino;
- Romeo Carrozzo;
- Andrea Bernasconi;
- Frances Flinter;
- Lucio Parmeggiani;
- Anna Volzone;
- Elena Parrini;
- Davide Mei;
- Jozef M. Jarosz;
- Robin G. Morris;
- Polly Pratt;
- Gaetano Tortorella;
- François Dubeau;
- Frederick Andermann;
- William B. Dobyns;
- Soma Das
Publication type:
Article
Severe presentation and complex brain malformations in an individual carrying a CCND2 variant.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.708
By:
- Cappuccio, Gerarda;
- Ugga, Lorenzo;
- Parrini, Elena;
- D'Amico, Alessandra;
- Brunetti‐Pierri, Nicola
Publication type:
Article
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.
Published in:
Cerebral Cortex, 2023, v. 33, n. 17, p. 9709, doi. 10.1093/cercor/bhad235
By:
- Specchio, Nicola;
- Trivisano, Marina;
- Lenge, Matteo;
- Ferretti, Alessandro;
- Mei, Davide;
- Parrini, Elena;
- Napolitano, Antonio;
- Rossi-Espagnet, Camilla;
- Talenti, Giacomo;
- Longo, Daniela;
- Proietti, Jacopo;
- Ragona, Francesca;
- Freri, Elena;
- Solazzi, Roberta;
- Granata, Tiziana;
- Darra, Francesca;
- Bernardina, Bernardo Dalla;
- Vigevano, Federico;
- Guerrini, Renzo
Publication type:
Article
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum.
Published in:
Movement Disorders, 2023, v. 38, n. 12, p. 2313, doi. 10.1002/mds.29585
By:
- Galosi, Serena;
- Novelli, Maria;
- Di Rocco, Martina;
- Flex, Elisabetta;
- Messina, Elena;
- Pollini, Luca;
- Parrini, Elena;
- Pisani, Francesco;
- Guerrini, Renzo;
- Leuzzi, Vincenzo;
- Martinelli, Simone
Publication type:
Article
In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1140, doi. 10.1002/ajmg.a.33880
By:
- Parrini, Elena;
- Rivas, Isabel Llano;
- Toral, Joaquin Fernandez;
- Pucatti, Daniela;
- Giglio, Sabrina;
- Mei, Davide;
- Guerrini, Renzo
Publication type:
Article
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Published in:
Human Mutation, 2017, v. 38, n. 2, p. 216, doi. 10.1002/humu.23149
By:
- Parrini, Elena;
- Marini, Carla;
- Mei, Davide;
- Galuppi, Anna;
- Cellini, Elena;
- Pucatti, Daniela;
- Chiti, Laura;
- Rutigliano, Domenico;
- Bianchini, Claudia;
- Virdò, Simona;
- Vita, Dalila;
- Bigoni, Stefania;
- Barba, Carmen;
- Mari, Francesco;
- Montomoli, Martino;
- Pisano, Tiziana;
- Rosati, Anna;
- Guerrini, Renzo
Publication type:
Article
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.
Published in:
Genes, 2021, v. 12, n. 8, p. 1208, doi. 10.3390/genes12081208
By:
- Contrò, Gianluca;
- Micalizzi, Alessia;
- Giangiobbe, Sara;
- Caraffi, Stefano Giuseppe;
- Zuntini, Roberta;
- Rosato, Simonetta;
- Pollazzon, Marzia;
- Terracciano, Alessandra;
- Napoli, Manuela;
- Rizzi, Susanna;
- Salerno, Grazia Gabriella;
- Radio, Francesca Clementina;
- Niceta, Marcello;
- Parrini, Elena;
- Fusco, Carlo;
- Gargano, Giancarlo;
- Guerrini, Renzo;
- Tartaglia, Marco;
- Novelli, Antonio;
- Zuffardi, Orsetta
Publication type:
Article
Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia.
Published in:
Neurogenetics, 2004, v. 5, n. 3, p. 191, doi. 10.1007/s10048-004-0187-y
By:
- Parrini, Elena;
- Mei, Davide;
- Wright, Michael;
- Dorn, Thomas;
- Guerrini, Renzo
Publication type:
Article
Genetic Basis of Brain Malformations.
Published in:
Molecular Syndromology, 2016, v. 7, n. 4, p. 220, doi. 10.1159/000448639
By:
- Parrini, Elena;
- Conti, Valerio;
- Dobyns, William B.;
- Guerrini, Renzo
Publication type:
Article

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