Genetic Basis of Brain Malformations
Parrini, Elena, Conti, Valerio, Dobyns, William B., Guerrini, Renzo
Published in Molecular syndromology (01.09.2016)
Published in Molecular syndromology (01.09.2016)
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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
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Published in Nature genetics (01.06.2013)
Published in Nature genetics (01.06.2013)
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Lissencephaly: Expanded imaging and clinical classification
Di Donato, Nataliya, Chiari, Sara, Mirzaa, Ghayda M., Aldinger, Kimberly, Parrini, Elena, Olds, Carissa, Barkovich, A. James, Guerrini, Renzo, Dobyns, William B.
Published in American journal of medical genetics. Part A (01.06.2017)
Published in American journal of medical genetics. Part A (01.06.2017)
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Somatic Mutations in Cerebral Cortical Malformations
Jamuar, Saumya S, Lam, Anh-Thu N, Kircher, Martin, D’Gama, Alissa M, Wang, Jian, Barry, Brenda J, Zhang, Xiaochang, Hill, Robert Sean, Partlow, Jennifer N, Rozzo, Aldo, Servattalab, Sarah, Mehta, Bhaven K, Topcu, Meral, Amrom, Dina, Andermann, Eva, Dan, Bernard, Parrini, Elena, Guerrini, Renzo, Scheffer, Ingrid E, Berkovic, Samuel F, Leventer, Richard J, Shen, Yiping, Wu, Bai Lin, Barkovich, A. James, Sahin, Mustafa, Chang, Bernard S, Bamshad, Michael, Nickerson, Deborah A, Shendure, Jay, Poduri, Annapurna, Yu, Timothy W, Walsh, Christopher A
Published in The New England journal of medicine (21.08.2014)
Published in The New England journal of medicine (21.08.2014)
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SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation
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, Spencer, Careni E., Lippa, Natalie, Srinivasan, Shraddha, Charzewska, Agnieszka, Hoffman‐Zacharska, Dorota, Fitzpatrick, David, Harrison, Victoria, Vasudevan, Pradeep, Joss, Shelagh, Pilz, Daniela T., Fawcett, Katherine A., Helbig, Ingo, Matsumoto, Naomichi, Kearney, Jennifer A., Fry, Andrew E., Goldberg, Ethan M.
Published in Annals of neurology (01.08.2020)
Published in Annals of neurology (01.08.2020)
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International consensus recommendations on the diagnostic work-up for malformations of cortical development
Oegema, Renske, Barakat, Tahsin Stefan, Wilke, Martina, Stouffs, Katrien, Amrom, Dina, Aronica, Eleonora, Bahi-Buisson, Nadia, Conti, Valerio, Fry, Andrew E., Geis, Tobias, Andres, David Gomez, Parrini, Elena, Pogledic, Ivana, Said, Edith, Soler, Doriette, Valor, Luis M., Zaki, Maha S., Mirzaa, Ghayda, Dobyns, William B., Reiner, Orly, Guerrini, Renzo, Pilz, Daniela T., Hehr, Ute, Leventer, Richard J., Jansen, Anna C., Mancini, Grazia M. S., Di Donato, Nataliya
Published in Nature reviews. Neurology (01.11.2020)
Published in Nature reviews. Neurology (01.11.2020)
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Co‐occurring malformations of cortical development and SCN1A gene mutations
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
Published in Epilepsia (Copenhagen) (01.07.2014)
Published in Epilepsia (Copenhagen) (01.07.2014)
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Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2 , in perisylvian polymicrogyria: a next-generation sequencing study
Mirzaa, Ghayda M, Dr, Conti, Valerio, PhD, Timms, Andrew E, PhD, Smyser, Christopher D, MD, Ahmed, Sarah, MD, Carter, Melissa, MD, Barnett, Sarah, MS, Hufnagel, Robert B, MD, Goldstein, Amy, MD, Narumi-Kishimoto, Yoko, MD, Olds, Carissa, MSc, Collins, Sarah, MS, Johnston, Kathreen, MD, Deleuze, Jean-François, PhD, Nitschké, Patrick, PhD, Friend, Kathryn, PhD, Harris, Catharine, MD, Goetsch, Allison, MS, Martin, Beth, BS, Boyle, Evan August, BS, Parrini, Elena, MD, Mei, Davide, MSLT, Tattini, Lorenzo, PhD, Slavotinek, Anne, Prof, Blair, Ed, MRCP, Barnett, Christopher, MBBS, Shendure, Jay, Prof, Chelly, Jamel, Prof, Dobyns, William B, Prof, Guerrini, Renzo, Prof
Published in Lancet neurology (01.12.2015)
Published in Lancet neurology (01.12.2015)
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Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene
CONTI, Valerio, CARABALONA, Aurelie, 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, PALLESI-POCACHARD, Emilie, ROBERTSON, Stephen P, BERKOVIC, Samuel F, REPRESA, Alfonso, KEAYS, David A, CARDOSO, Carlos, GUERRINI, Renzo, PARRINI, Elena, LEVENTER, Richard J, BUHLER, Emmanuelle, MCGILLIVRAY, George, MICHEL, François J, STRIANO, Pasquale, MEI, Davide
Published in Brain (London, England : 1878) (01.11.2013)
Published in Brain (London, England : 1878) (01.11.2013)
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Optimizing the molecular diagnosis of CDKL5 gene–related epileptic encephalopathy in boys
Mei, Davide, Darra, Francesca, Barba, Carmen, Marini, Carla, Fontana, Elena, Chiti, Laura, Parrini, Elena, Dalla Bernardina, Bernardo, Guerrini, Renzo
Published in Epilepsia (Copenhagen) (01.11.2014)
Published in Epilepsia (Copenhagen) (01.11.2014)
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Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature
Barbato, Alessandro, Gori, Giulia, Sacchini, Michele, Pochiero, Francesca, Bargiacchi, Sara, Traficante, Giovanna, Palazzo, Viviana, Tiberi, Lucia, Bianchini, Claudia, Mei, Davide, Parrini, Elena, Pisano, Tiziana, Procopio, Elena, Guerrini, Renzo, Peron, Angela, Stagi, Stefano
Published in Endocrine Connections (01.10.2024)
Published in Endocrine Connections (01.10.2024)
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Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants
Panza, Norman, Bianchini, Claudia, Cetica, Valentina, Balestrini, Simona, Barba, Carmen, Ferrari, Anna Rita, Mei, Davide, Parmeggiani, Lucio, Parrini, Elena, Guerrini, Renzo
Published in Epilepsia open (01.02.2024)
Published in Epilepsia open (01.02.2024)
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Bilateral frontoparietal polymicrogyria, Lennox‐Gastaut syndrome, and GPR56 gene mutations
Parrini, Elena, Ferrari, Anna Rita, Dorn, Thomas, Walsh, Christopher A., Guerrini, Renzo
Published in Epilepsia (Copenhagen) (01.06.2009)
Published in Epilepsia (Copenhagen) (01.06.2009)
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A de novo KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data
Laccetta, Gianluigi, Fiori, Simona, Giampietri, Matteo, Ferrari, Annarita, Cetica, Valentina, Bernardini, Manuela, Chesi, Francesca, Mazzotti, Sara, Parrini, Elena, Ciantelli, Massimiliano, Guzzetta, Andrea, Ghirri, Paolo
Published in Frontiers in pediatrics (06.09.2019)
Published in Frontiers in pediatrics (06.09.2019)
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Autosomal Dominant Early‐onset Cortical Myoclonus, Photic‐induced Myoclonus, and Epilepsy in a Large Pedigree
Gardella, Elena, Tinuper, Paolo, Marini, Carla, Guerrini, Renzo, Parrini, Elena, Bisulli, Francesca, Liguori, Rocco, Montagna, Pasquale, Lugaresi, Elio
Published in Epilepsia (Copenhagen) (01.10.2006)
Published in Epilepsia (Copenhagen) (01.10.2006)
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Generalized Epilepsy with Febrile Seizures Plus (GEFS+): Clinical Spectrum in Seven Italian Families Unrelated to SCN1A, SCN1B, and GABRG2 Gene Mutations
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
Published in Epilepsia (Copenhagen) (01.02.2004)
Published in Epilepsia (Copenhagen) (01.02.2004)
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Double gonosomal mosaicism as an unusual hereditary mechanism in familial GRIN2A -related disorder
Cetica, Valentina, Cavallin, Mara, Ricci, Maria Luisa, Mandorlini, Claudia, Bartolini, Emanuele, Parrini, Elena, Guerrini, Renzo
Published in Journal of medical genetics (31.07.2024)
Published in Journal of medical genetics (31.07.2024)
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