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278 results on '"Madia, Francesca"'

1. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

Author

Kalm, Tassja, Schob, Claudia, Völler, Hanna, Gardeitchik, Thatjana, Gilissen, Christian, Pfundt, Rolph, Klöckner, Chiara, Platzer, Konrad, Klabunde-Cherwon, Annick, Ries, Markus, Syrbe, Steffen, Beccaria, Francesca, Madia, Francesca, Scala, Marcello, Zara, Federico, Hofstede, Floris, Simon, Marleen E.H., van Jaarsveld, Richard H., Oegema, Renske, van Gassen, Koen L.I., Holwerda, Sjoerd J.B., Barakat, Tahsin Stefan, Bouman, Arjan, van Slegtenhorst, Marjon, Álvarez, Sara, Fernández-Jaén, Alberto, Porta, Javier, Accogli, Andrea, Mancardi, Margherita Maria, Striano, Pasquale, Iacomino, Michele, Chae, Jong-Hee, Jang, SeSong, Kim, Soo Y., Chitayat, David, Mercimek-Andrews, Saadet, Depienne, Christel, Kampmeier, Antje, Kuechler, Alma, Surowy, Harald, Bertini, Enrico Silvio, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Tartaglia, Marco, Gauthier, Lucas, Genevieve, David, Tharreau, Mylène, Azoulay, Noy, Zaks-Hoffer, Gal, Gilad, Nesia K., Orenstein, Naama, Bernard, Geneviève, Thiffault, Isabelle, Denecke, Jonas, Herget, Theresia, Kortüm, Fanny, Kubisch, Christian, Bähring, Robert, and Kindler, Stefan

Published
2024
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3. Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.

Author

Clara-Hwang, Angela, Stefani, Stefani, Lau, Tracy, Scala, Marcello, Aynekin, Busra, Bernardo, Pia, Madia, Francesca, Bakhtadze, Sophia, Kaiyrzhanov, Rauan, Maroofian, Reza, Zara, Federico, Srinivasan, Varunvenkat M., Gowda, Vykuntaraju, Guliyeva, Ulviyya, Montavont, Alexandra, Poulat, Anne-Lise, Güleç, Ayten, Berger, Colette, Ville, Dorothee M., and de Bellescize, Julitta

Published
2024
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4. Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?

Author

Biancotto, Giulia, Rosti, Giulia, Madia, Francesca, Capra, Valeria, Scala, Marcello, Aleo, Elena, and Paladini, Dario

Abstract

Brachyolmia is a rare form of skeletal dysplasia characterized by a wide genetic and clinical heterogeneity. This condition is usually diagnosed postnatally, and very few cases of prenatal diagnosis have been described so far. Here, we report a case of a pregnant woman at 20 weeks' gestation referred to our center because of fetal short long bones. On targeted ultrasound, mild bowing of the femurs and fibulae and mild micrognathia were also observed. Exome sequencing analysis showed the presence in compound heterozygosity of two pathogenic variants—both truncating variants—in the 3‐prime‐phosphoadenosine 5‐prime‐phosphosulfate synthase 2 (PAPSS2) gene, known to cause brachyolmia type 4 (OMIM #612847). Of note, all of the few cases reported prenatally have indeed truncating variants. Hence, we speculate this kind of variant is likely responsible for a complete loss of function of the protein leading to an earlier and more severe phenotype. Key points: What is already known on this topic? Brachyolmia shows a wide clinical heterogeneity and few cases have been described in fetuses. What does this study add? We report an early fetal diagnosis of brachyolmia, and speculate that the compound heterozygosity with two truncating mutations may be responsible for the prenatal onset of the bone shortening. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients

Author

Balagura, Ganna, Riva, Antonella, Marchese, Francesca, Iacomino, Michele, Madia, Francesca, Giacomini, Thea, Mancardi, Maria Margherita, Amadori, Elisabetta, Vari, Maria Stella, Salpietro, Vincenzo, Russo, Angelo, Messana, Tullio, Vignoli, Aglaia, Chiesa, Valentina, Giordano, Lucio, Accorsi, Patrizia, Caffi, Lorella, Orsini, Alessandro, Bonuccelli, Alice, Santucci, Margherita, Vecchi, Marilena, Vanadia, Francesca, Milito, Giuseppe, Fusco, Carlo, Cricchiutti, Giovanni, Carpentieri, Marilisa, Margari, Lucia, Spalice, Alberto, Beccaria, Francesca, Benfenati, Fabio, Zara, Federico, and Striano, Pasquale

Published
2020
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7. Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations

Author

Accogli, Andrea, Severino, Mariasavina, Riva, Antonella, Madia, Francesca, Balagura, Ganna, Iacomino, Michele, Carlini, Barbara, Baldassari, Simona, Giacomini, Thea, Croci, Carolina, Pisciotta, Livia, Messana, Tullio, Boni, Antonella, Russo, Angelo, Bilo, Leonilda, Tonziello, Rosa, Coppola, Antonietta, Filla, Alessandro, Mecarelli, Oriano, Casalone, Rosario, Pisani, Francesco, Falsaperla, Raffaele, Marino, Silvia, Parisi, Pasquale, Ferretti, Alessandro, Elia, Maurizio, Luchetti, Anna, Milani, Donatella, Vanadia, Francesca, Silvestri, Laura, Rebessi, Erika, Parente, Eliana, Vatti, Giampaolo, Mancardi, Maria Margherita, Nobili, Lino, Capra, Valeria, Salpietro, Vincenzo, Striano, Pasquale, and Zara, Federico

Published
2020
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8. Epilepsy Course and Developmental Trajectories in STXBP1-DEE

Author

Balagura, Ganna, Xian, Julie, Riva, Antonella, Marchese, Francesca, Ben Zeev, Bruria, Rios, Loreto, Sirsi, Deepa, Accorsi, Patrizia, Amadori, Elisabetta, Astrea, Guja, Baldassari, Simona, Beccaria, Francesca, Boni, Antonella, Budetta, Mauro, Cantalupo, Gaetano, Capovilla, Giuseppe, Cesaroni, Elisabetta, Chiesa, Valentina, Coppola, Antonietta, Dilena, Robertino, Faggioli, Raffaella, Ferrari, Annarita, Fiorini, Elena, Madia, Francesca, Gennaro, Elena, Giacomini, Thea, Giordano, Lucio, Iacomino, Michele, Lattanzi, Simona, Marini, Carla, Mancardi, Maria Margherita, Mastrangelo, Massimo, Messana, Tullio, Minetti, Carlo, Nobili, Lino, Papa, Amanda, Parmeggiani, Antonia, Pisano, Tiziana, Russo, Angelo, Salpietro, Vincenzo, Savasta, Salvatore, Scala, Marcello, Accogli, Andrea, Scelsa, Barbara, Scudieri, Paolo, Spalice, Alberto, Specchio, Nicola, Trivisano, Marina, Tzadok, Michal, Valeriani, Massimiliano, Vari, Maria Stella, Verrotti, Alberto, Vigevano, Federico, Vignoli, Aglaia, Toonen, Ruud, Zara, Federico, Helbig, Ingo, and Striano, Pasquale

Published
2022
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9. Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia

Author

Romano, Ferruccio, primary, Amadori, Elisabetta, additional, Madia, Francesca, additional, Severino, Mariasavina, additional, Capra, Valeria, additional, Rizzo, Renata, additional, Barone, Rita, additional, Corradi, Beatrice, additional, Maragliano, Luca, additional, Shams Nosrati, Mohammad Sadegh, additional, Falace, Antonio, additional, Striano, Pasquale, additional, Zara, Federico, additional, and Scala, Marcello, additional

Published
2023
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15. Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

Author

D’Onofrio, Gianluca, primary, Accogli, Andrea, additional, Severino, Mariasavina, additional, Caliskan, Haluk, additional, Kokotović, Tomislav, additional, Blazekovic, Antonela, additional, Jercic, Kristina Gotovac, additional, Markovic, Silvana, additional, Zigman, Tamara, additional, Goran, Krnjak, additional, Barišić, Nina, additional, Duranovic, Vlasta, additional, Ban, Ana, additional, Borovecki, Fran, additional, Ramadža, Danijela Petković, additional, Barić, Ivo, additional, Fazeli, Walid, additional, Herkenrath, Peter, additional, Marini, Carla, additional, Vittorini, Roberta, additional, Gowda, Vykuntaraju, additional, Bouman, Arjan, additional, Rocca, Clarissa, additional, Alkhawaja, Issam Azmi, additional, Murtaza, Bibi Nazia, additional, Rehman, Malik Mujaddad Ur, additional, Al Alam, Chadi, additional, Nader, Gisele, additional, Mancardi, Maria Margherita, additional, Giacomini, Thea, additional, Srivastava, Siddharth, additional, Alvi, Javeria Raza, additional, Tomoum, Hoda, additional, Matricardi, Sara, additional, Iacomino, Michele, additional, Riva, Antonella, additional, Scala, Marcello, additional, Madia, Francesca, additional, Pistorio, Angela, additional, Salpietro, Vincenzo, additional, Minetti, Carlo, additional, Rivière, Jean-Baptiste, additional, Srour, Myriam, additional, Efthymiou, Stephanie, additional, Maroofian, Reza, additional, Houlden, Henry, additional, Vernes, Sonja Catherine, additional, Zara, Federico, additional, Striano, Pasquale, additional, and Nagy, Vanja, additional

Published
2023
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16. Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity

Author

Chelleri, Cristina, primary, Scala, Marcello, additional, De Marco, Patrizia, additional, Guerriero, Vittorio, additional, Ognibene, Marzia, additional, Madia, Francesca, additional, Guerrisi, Sara, additional, Di Duca, Marco, additional, Torre, Michele, additional, Tamburro, Serena, additional, Scudieri, Paolo, additional, Piccolo, Gianluca, additional, Mattioli, Girolamo, additional, Buffelli, Francesca, additional, Uva, Paolo, additional, Vozzi, Diego, additional, Fulcheri, Ezio, additional, Striano, Pasquale, additional, Diana, Maria Cristina, additional, and Zara, Federico, additional

Published
2023
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17. Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants

Author

Malerba, Federica, Alberini, Giulio, Balagura, Ganna, Marchese, Francesca, Amadori, Elisabetta, Riva, Antonella, Vari, Maria Stella, Gennaro, Elena, Madia, Francesca, Salpietro, Vincenzo, Angriman, Marco, Giordano, Lucio, Accorsi, Patrizia, Trivisano, Marina, Specchio, Nicola, Russo, Angelo, Gobbi, Giuseppe, Raviglione, Federico, Pisano, Tiziana, Marini, Carla, Mancardi, Maria M., Nobili, Lino, Freri, Elena, Castellotti, Barbara, Capovilla, Giuseppe, Coppola, Antonietta, Verrotti, Alberto, Martelli, Paola, Miceli, Francesco, Maragliano, Luca, Benfenati, Fabio, Cilio, Maria R., Johannesen, Kathrine M., Møller, Rikke S., Ceulemans, Berten, Minetti, Carlo, Weckhuysen, Sarah, Zara, Federico, Taglialatela, Maurizio, and Striano, Pasquale

Published
2020
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19. Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213

Author

Ognibene, Marzia, primary, Scala, Marcello, additional, Iacomino, Michele, additional, Schiavetti, Irene, additional, Madia, Francesca, additional, Traverso, Monica, additional, Guerrisi, Sara, additional, Di Duca, Marco, additional, Caroli, Francesco, additional, Baldassari, Simona, additional, Tappino, Barbara, additional, Romano, Ferruccio, additional, Uva, Paolo, additional, Vozzi, Diego, additional, Chelleri, Cristina, additional, Piatelli, Gianluca, additional, Diana, Maria Cristina, additional, Zara, Federico, additional, Capra, Valeria, additional, Pavanello, Marco, additional, and De Marco, Patrizia, additional

Published
2023
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23. MYT1Lvariant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy

Author

Boeri, Silvia, Scala, Marcello, Madia, Francesca, Perucco, Francesca, Vozzi, Diego, Capra, Valeria, Zara, Federico, Nobili, Lino, and Mancardi, Maria Margherita

Abstract

The MYT1Lgene plays a critical role in brain development, promoting the differentiation and proliferation of cells, important for the formation of brain connections. MYT1Lis also involved in regulating the development of the hypothalamus, which is a crucial actor in weight regulation. Genetic variants in the MYT1Lare associated with a range of developmental disorders, including intellectual disability, autism spectrum disorder, facial dysmorphisms, and epilepsy. The specific role of MYT1Lin epilepsy remains elusive and no patients with developmental and epileptic encephalopathy (DEE) have been described so far. In this study, we report a patient with DEE presenting with severe refractory epilepsy, obesity, and behavioral abnormalities. Exome sequencing led to the identification of the heterozygous variant NM_001303052.2: c.1717G>A, p.(Gly573Arg) (chr2‐1910340‐C‐T; GRCh38.p14) in the MYT1Lgene. This variant was found to be inherited by the father, who was a mosaic and did not suffer from any neuropsychiatric disorders. Our observations expand the molecular and phenotype spectrum of MYT1L‐related disorders, suggesting that affected individuals may present with severe epileptic phenotype leading to neurocognitive deterioration. Furthermore, we show that mosaic parents may not display the disease phenotype, with relevant implications for genetic counseling.

Published
2023
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24. Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues

Author

Romano, Ferruccio, primary, Madia, Francesca, additional, De Marco, Patrizia, additional, Ognibene, Marzia, additional, Guerrisi, Sara, additional, Scala, Marcello, additional, Iacomino, Michele, additional, Baldassari, Simona, additional, Vercellino, Nadia, additional, Manunza, Francesca, additional, Tallone, Ramona, additional, Pavanello, Marco, additional, Piatelli, Gianluca, additional, Garaventa, Alberto, additional, Zara, Federico, additional, and Capra, Valeria, additional

Published
2022
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26. Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review

Author

D'Onofrio, Gianluca, primary, Riva, Antonella, additional, Di Rosa, Gabriella, additional, Cali', Elisa, additional, Efthymiou, Stephanie, additional, Gitto, Eloisa, additional, Madia, Francesca, additional, Accogli, Andrea, additional, Zara, Federico, additional, Houlden, Henry, additional, Salpietro, Vincenzo, additional, Striano, Pasquale, additional, and Soler, Doriette, additional

Published
2022
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27. De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

Author

Scala, Marcello, primary, Drouot, Nathalie, additional, MacLennan, Suzanna C., additional, Wessels, Marja W., additional, Krygier, Magdalena, additional, Pavinato, Lisa, additional, Telegrafi, Aida, additional, de Man, Stella A., additional, van Slegtenhorst, Marjon, additional, Iacomino, Michele, additional, Madia, Francesca, additional, Scudieri, Paolo, additional, Uva, Paolo, additional, Giacomini, Thea, additional, Nobile, Giulia, additional, Mancardi, Maria Margherita, additional, Balagura, Ganna, additional, Galloni, Giovanni Battista, additional, Verrotti, Alberto, additional, Umair, Muhammad, additional, Khan, Amjad, additional, Liebelt, Jan, additional, Schmidts, Miriam, additional, Langer, Thorsten, additional, Brusco, Alfredo, additional, Lipska‐Ziętkiewicz, Beata S., additional, Saris, Jasper J., additional, Charlet‐Berguerand, Nicolas, additional, Zara, Federico, additional, Striano, Pasquale, additional, and Piton, Amélie, additional

Published
2022
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28. A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome

Author

Riva, Antonella, primary, Nobile, Giulia, additional, Giacomini, Thea, additional, Ognibene, Marzia, additional, Scala, Marcello, additional, Balagura, Ganna, additional, Madia, Francesca, additional, Accogli, Andrea, additional, Romano, Ferruccio, additional, Tortora, Domenico, additional, Severino, Mariasavina, additional, Scudieri, Paolo, additional, Baldassari, Simona, additional, Musante, Ilaria, additional, Uva, Paolo, additional, Salpietro, Vincenzo, additional, Torella, Annalaura, additional, Nigro, Vincenzo, additional, Capra, Valeria, additional, Nobili, Lino, additional, Striano, Pasquale, additional, Mancardi, Maria Margherita, additional, Zara, Federico, additional, and Iacomino, Michele, additional

Published
2022
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29. Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome.

Author

Scala, Marcello, Grandis, Elisa De, Nobile, Giulia, Iacomino, Michele, Madia, Francesca, Capra, Valeria, Nobili, Lino, Zara, Federico, and Striano, Pasquale

Subjects
TOURETTE syndrome, PHENOTYPES, MITOCHONDRIAL pathology
Abstract

Further studies will play a pivotal role in the refinement of I ZBTB11 i -related neuropsychiatric features and the investigation of the potential role of I ZBTB11 i as a risk gene for Tourette syndrome. In particular, Tourette syndrome in our patient suggests a possible pathophysiological link between this condition and the mitochondrial dysfunction resulting from loss of function I ZBTB11 i variants. [Extracted from the article]

Published
2023
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30. Diagnostic Approach to Macrocephaly in Children

Author

Accogli, Andrea, primary, Geraldo, Ana Filipa, additional, Piccolo, Gianluca, additional, Riva, Antonella, additional, Scala, Marcello, additional, Balagura, Ganna, additional, Salpietro, Vincenzo, additional, Madia, Francesca, additional, Maghnie, Mohamad, additional, Zara, Federico, additional, Striano, Pasquale, additional, Tortora, Domenico, additional, Severino, Mariasavina, additional, and Capra, Valeria, additional

Published
2022
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31. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Author

Motelow, Joshua E., primary, Povysil, Gundula, additional, Dhindsa, Ryan S., additional, Stanley, Kate E., additional, Allen, Andrew S., additional, Feng, Yen-Chen Anne, additional, Howrigan, Daniel P., additional, Abbott, Liam E., additional, Tashman, Katherine, additional, Cerrato, Felecia, additional, Cusick, Caroline, additional, Singh, Tarjinder, additional, Heyne, Henrike, additional, Byrnes, Andrea E., additional, Churchhouse, Claire, additional, Watts, Nick, additional, Solomonson, Matthew, additional, Lal, Dennis, additional, Gupta, Namrata, additional, Neale, Benjamin M., additional, Cavalleri, Gianpiero L., additional, Cossette, Patrick, additional, Cotsapas, Chris, additional, De Jonghe, Peter, additional, Dixon-Salazar, Tracy, additional, Guerrini, Renzo, additional, Hakonarson, Hakon, additional, Heinzen, Erin L., additional, Helbig, Ingo, additional, Kwan, Patrick, additional, Marson, Anthony G., additional, Petrovski, Slavé, additional, Kamalakaran, Sitharthan, additional, Sisodiya, Sanjay M., additional, Stewart, Randy, additional, Weckhuysen, Sarah, additional, Depondt, Chantal, additional, Dlugos, Dennis J., additional, Scheffer, Ingrid E., additional, Striano, Pasquale, additional, Freyer, Catharine, additional, Krause, Roland, additional, May, Patrick, additional, McKenna, Kevin, additional, Regan, Brigid M., additional, Bennett, Caitlin A., additional, Leu, Costin, additional, Leech, Stephanie L., additional, O’Brien, Terence J., additional, Todaro, Marian, additional, Stamberger, Hannah, additional, Andrade, Danielle M., additional, Ali, Quratulain Zulfiqar, additional, Sadoway, Tara R., additional, Krestel, Heinz, additional, Schaller, André, additional, Papacostas, Savvas S., additional, Kousiappa, Ioanna, additional, Tanteles, George A., additional, Christou, Yiolanda, additional, Štěrbová, Katalin, additional, Vlčková, Markéta, additional, Sedláčková, Lucie, additional, Laššuthová, Petra, additional, Klein, Karl Martin, additional, Rosenow, Felix, additional, Reif, Philipp S., additional, Knake, Susanne, additional, Neubauer, Bernd A., additional, Zimprich, Friedrich, additional, Feucht, Martha, additional, Reinthaler, Eva M., additional, Kunz, Wolfram S., additional, Zsurka, Gábor, additional, Surges, Rainer, additional, Baumgartner, Tobias, additional, von Wrede, Randi, additional, Pendziwiat, Manuela, additional, Muhle, Hiltrud, additional, Rademacher, Annika, additional, van Baalen, Andreas, additional, von Spiczak, Sarah, additional, Stephani, Ulrich, additional, Afawi, Zaid, additional, Korczyn, Amos D., additional, Kanaan, Moien, additional, Canavati, Christina, additional, Kurlemann, Gerhard, additional, Müller-Schlüter, Karen, additional, Kluger, Gerhard, additional, Häusler, Martin, additional, Blatt, Ilan, additional, Lemke, Johannes R., additional, Krey, Ilona, additional, Weber, Yvonne G., additional, Wolking, Stefan, additional, Becker, Felicitas, additional, Lauxmann, Stephan, additional, Boßelmann, Christian, additional, Kegele, Josua, additional, Hengsbach, Christian, additional, Rau, Sarah, additional, Steinhoff, Bernhard J., additional, Schulze-Bonhage, Andreas, additional, Borggräfe, Ingo, additional, Schankin, Christoph J., additional, Schubert-Bast, Susanne, additional, Schreiber, Herbert, additional, Mayer, Thomas, additional, Korinthenberg, Rudolf, additional, Brockmann, Knut, additional, Wolff, Markus, additional, Dennig, Dieter, additional, Madeleyn, Rene, additional, Kälviäinen, Reetta, additional, Saarela, Anni, additional, Timonen, Oskari, additional, Linnankivi, Tarja, additional, Lehesjoki, Anna-Elina, additional, Rheims, Sylvain, additional, Lesca, Gaetan, additional, Ryvlin, Philippe, additional, Maillard, Louis, additional, Valton, Luc, additional, Derambure, Philippe, additional, Bartolomei, Fabrice, additional, Hirsch, Edouard, additional, Michel, Véronique, additional, Chassoux, Francine, additional, Rees, Mark I., additional, Chung, Seo-Kyung, additional, Pickrell, William O., additional, Powell, Robert, additional, Baker, Mark D., additional, Fonferko-Shadrach, Beata, additional, Lawthom, Charlotte, additional, Anderson, Joseph, additional, Schneider, Natascha, additional, Balestrini, Simona, additional, Zagaglia, Sara, additional, Braatz, Vera, additional, Johnson, Michael R., additional, Auce, Pauls, additional, Sills, Graeme J., additional, Baum, Larry W., additional, Sham, Pak C., additional, Cherny, Stacey S., additional, Lui, Colin H.T., additional, Delanty, Norman, additional, Doherty, Colin P., additional, Shukralla, Arif, additional, El-Naggar, Hany, additional, Widdess-Walsh, Peter, additional, Barišić, Nina, additional, Canafoglia, Laura, additional, Franceschetti, Silvana, additional, Castellotti, Barbara, additional, Granata, Tiziana, additional, Ragona, Francesca, additional, Zara, Federico, additional, Iacomino, Michele, additional, Riva, Antonella, additional, Madia, Francesca, additional, Vari, Maria Stella, additional, Salpietro, Vincenzo, additional, Scala, Marcello, additional, Mancardi, Maria Margherita, additional, Nobili, Lino, additional, Amadori, Elisabetta, additional, Giacomini, Thea, additional, Bisulli, Francesca, additional, Pippucci, Tommaso, additional, Licchetta, Laura, additional, Minardi, Raffaella, additional, Tinuper, Paolo, additional, Muccioli, Lorenzo, additional, Mostacci, Barbara, additional, Gambardella, Antonio, additional, Labate, Angelo, additional, Annesi, Grazia, additional, Manna, Lorella, additional, Gagliardi, Monica, additional, Parrini, Elena, additional, Mei, Davide, additional, Vetro, Annalisa, additional, Bianchini, Claudia, additional, Montomoli, Martino, additional, Doccini, Viola, additional, Barba, Carmen, additional, Hirose, Shinichi, additional, Ishii, Atsushi, additional, Suzuki, Toshimitsu, additional, Inoue, Yushi, additional, Yamakawa, Kazuhiro, additional, Beydoun, Ahmad, additional, Nasreddine, Wassim, additional, Khoueiry Zgheib, Nathalie, additional, Tumiene, Birute, additional, Utkus, Algirdas, additional, Sadleir, Lynette G., additional, King, Chontelle, additional, Caglayan, S. Hande, additional, Arslan, Mutluay, additional, Yapıcı, Zuhal, additional, Topaloglu, Pınar, additional, Kara, Bulent, additional, Yis, Uluc, additional, Turkdogan, Dilsad, additional, Gundogdu-Eken, Aslı, additional, Bebek, Nerses, additional, Uğur-İşeri, Sibel, additional, Baykan, Betül, additional, Salman, Barış, additional, Haryanyan, Garen, additional, Yücesan, Emrah, additional, Kesim, Yeşim, additional, Özkara, Çiğdem, additional, Tsai, Meng-Han, additional, Ho, Chen-Jui, additional, Lin, Chih-Hsiang, additional, Lin, Kuang-Lin, additional, Chou, I-Jun, additional, Poduri, Annapurna, additional, Shiedley, Beth R., additional, Shain, Catherine, additional, Noebels, Jeffrey L., additional, Goldman, Alicia, additional, Busch, Robyn M., additional, Jehi, Lara, additional, Najm, Imad M., additional, Ferguson, Lisa, additional, Khoury, Jean, additional, Glauser, Tracy A., additional, Clark, Peggy O., additional, Buono, Russell J., additional, Ferraro, Thomas N., additional, Sperling, Michael R., additional, Lo, Warren, additional, Privitera, Michael, additional, French, Jacqueline A., additional, Schachter, Steven, additional, Kuzniecky, Ruben I., additional, Devinsky, Orrin, additional, Hegde, Manu, additional, Greenberg, David A., additional, Ellis, Colin A., additional, Goldberg, Ethan, additional, Helbig, Katherine L., additional, Cosico, Mahgenn, additional, Vaidiswaran, Priya, additional, Fitch, Eryn, additional, Berkovic, Samuel F., additional, Lerche, Holger, additional, Lowenstein, Daniel H., additional, and Goldstein, David B., additional

Published
2021
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32. Distinct gene-set burden patterns underlie common generalized and focal epilepsies

Author

Koko, Mahmoud, primary, Krause, Roland, additional, Sander, Thomas, additional, Bobbili, Dheeraj Reddy, additional, Nothnagel, Michael, additional, May, Patrick, additional, Lerche, Holger, additional, Feng, Yen-Chen Anne, additional, Howrigan, Daniel P, additional, Abbott, Liam E, additional, Tashman, Katherine, additional, Cerrato, Felecia, additional, Singh, Tarjinder, additional, Heyne, Henrike, additional, Byrnes, Andrea, additional, Churchhouse, Claire, additional, Watts, Nick, additional, Solomonson, Matthew, additional, Lal, Dennis, additional, Heinzen, Erin L, additional, Dhindsa, Ryan S, additional, Stanley, Kate E, additional, Cavalleri, Gianpiero L, additional, Hakonarson, Hakon, additional, Helbig, Ingo, additional, Weckhuysen, Sarah, additional, Petrovski, Slavé, additional, Kamalakaran, Sitharthan, additional, Sisodiya, Sanjay M, additional, Cossette, Patrick, additional, Cotsapas, Chris, additional, DeJonghe, Peter, additional, Dixon-Salazar, Tracy, additional, Guerrini, Renzo, additional, Kwan, Patrick, additional, Marson, Anthony G, additional, Stewart, Randy, additional, Depondt, Chantal, additional, Dlugos, Dennis J, additional, Scheffer, Ingrid E, additional, Striano, Pasquale, additional, Freyer, Catharine, additional, McKenna, Kevin, additional, Regan, Brigid M, additional, Bellows, Susannah T, additional, Leu, Costin, additional, Bennett, Caitlin A, additional, Johns, Esther M C, additional, Macdonald, Alexandra, additional, Shilling, Hannah, additional, Burgess, Rosemary, additional, Weckhuysen, Dorien, additional, Bahlo, Melanie, additional, O'Brien, Terence J, additional, Todaro, Marian, additional, Stamberger, Hannah, additional, Andrade, Danielle M, additional, Sadoway, Tara R, additional, Mo, Kelly, additional, Krestel, Heinz, additional, Gallati, Sabina, additional, Papacostas, Savvas S, additional, Kousiappa, Ioanna, additional, Tanteles, George A, additional, Štěrbová, Katalin, additional, Vlčková, Markéta, additional, Sedláčková, Lucie, additional, Laššuthová, Petra, additional, Klein, Karl Martin, additional, Rosenow, Felix, additional, Reif, Philipp S, additional, Knake, Susanne, additional, Kunz, Wolfram S, additional, Zsurka, Gábor, additional, Elger, Christian E, additional, Bauer, Jürgen, additional, Rademacher, Michael, additional, Pendziwiat, Manuela, additional, Muhle, Hiltrud, additional, Rademacher, Annika, additional, vanBaalen, Andreas, additional, vonSpiczak, Sarah, additional, Stephani, Ulrich, additional, Afawi, Zaid, additional, Korczyn, Amos D, additional, Kanaan, Moien, additional, Canavati, Christina, additional, Kurlemann, Gerhard, additional, Müller-Schlüter, Karen, additional, Kluger, Gerhard, additional, Häusler, Martin, additional, Blatt, Ilan, additional, Lemke, Johannes R, additional, Krey, Ilona, additional, Weber, Yvonne G, additional, Wolking, Stefan, additional, Becker, Felicitas, additional, Hengsbach, Christian, additional, Rau, Sarah, additional, Maisch, Ana F, additional, Steinhoff, Bernhard J, additional, Schulze-Bonhage, Andreas, additional, Schubert-Bast, Susanne, additional, Schreiber, Herbert, additional, Borggräfe, Ingo, additional, Schankin, Christoph J, additional, Mayer, Thomas, additional, Korinthenberg, Rudolf, additional, Brockmann, Knut, additional, Dennig, Dieter, additional, Madeleyn, Rene, additional, Kälviäinen, Reetta, additional, Auvinen, Pia, additional, Saarela, Anni, additional, Linnankivi, Tarja, additional, Lehesjoki, Anna-Elina, additional, Rees, Mark I, additional, Chung, Seo-Kyung, additional, Pickrell, William O, additional, Powell, Robert, additional, Schneider, Natascha, additional, Balestrini, Simona, additional, Zagaglia, Sara, additional, Braatz, Vera, additional, Johnson, Michael R, additional, Auce, Pauls, additional, Sills, Graeme J, additional, Baum, Larry W, additional, Sham, Pak C, additional, Cherny, Stacey S, additional, Lui, Colin H T, additional, Barišić, Nina, additional, Delanty, Norman, additional, Doherty, Colin P, additional, Shukralla, Arif, additional, McCormack, Mark, additional, El-Naggar, Hany, additional, Canafoglia, Laura, additional, Franceschetti, Silvana, additional, Castellotti, Barbara, additional, Granata, Tiziana, additional, Zara, Federico, additional, Iacomino, Michele, additional, Madia, Francesca, additional, Vari, Maria Stella, additional, Mancardi, Maria Margherita, additional, Salpietro, Vincenzo, additional, Bisulli, Francesca, additional, Tinuper, Paolo, additional, Licchetta, Laura, additional, Pippucci, Tommaso, additional, Stipa, Carlotta, additional, Minardi, Raffaella, additional, Gambardella, Antonio, additional, Labate, Angelo, additional, Annesi, Grazia, additional, Manna, Lorella, additional, Gagliardi, Monica, additional, Parrini, Elena, additional, Mei, Davide, additional, Vetro, Annalisa, additional, Bianchini, Claudia, additional, Montomoli, Martino, additional, Doccini, Viola, additional, Marini, Carla, additional, Suzuki, Toshimitsu, additional, Inoue, Yushi, additional, Yamakawa, Kazuhiro, additional, Tumiene, Birute, additional, Sadleir, Lynette G, additional, King, Chontelle, additional, Mountier, Emily, additional, Caglayan, Hande S, additional, Arslan, Mutluay, additional, Yapıcı, Zuhal, additional, Yis, Uluc, additional, Topaloglu, Pınar, additional, Kara, Bulent, additional, Turkdogan, Dilsad, additional, Gundogdu-Eken, Aslı, additional, Bebek, Nerses, additional, Uğur-İşeri, Sibel, additional, Baykan, Betül, additional, Salman, Barış, additional, Haryanyan, Garen, additional, Yücesan, Emrah, additional, Kesim, Yeşim, additional, Özkara, Çiğdem, additional, Poduri, Annapurna, additional, Shiedley, Beth R, additional, Shain, Catherine, additional, Buono, Russell J, additional, Ferraro, Thomas N, additional, Sperling, Michael R, additional, Lo, Warren, additional, Privitera, Michael, additional, French, Jacqueline A, additional, Schachter, Steven, additional, Kuzniecky, Ruben I, additional, Devinsky, Orrin, additional, Hegde, Manu, additional, Khankhanian, Pouya, additional, Helbig, Katherine L, additional, Ellis, Colin A, additional, Spalletta, Gianfranco, additional, Piras, Fabrizio, additional, Piras, Federica, additional, Gili, Tommaso, additional, Ciullo, Valentina, additional, Reif, Andreas, additional, McQuillin, Andrew, additional, Bass, Nick, additional, McIntosh, Andrew, additional, Blackwood, Douglas, additional, Johnstone, Mandy, additional, Palotie, Aarno, additional, Pato, Michele T, additional, Pato, Carlos N, additional, Bromet, Evelyn J, additional, Carvalho, Celia Barreto, additional, Achtyes, Eric D, additional, Azevedo, Maria Helena, additional, Kotov, Roman, additional, Lehrer, Douglas S, additional, Malaspina, Dolores, additional, Marder, Stephen R, additional, Medeiros, Helena, additional, Morley, Christopher P, additional, Perkins, Diana O, additional, Sobell, Janet L, additional, Buckley, Peter F, additional, Macciardi, Fabio, additional, Rapaport, Mark H, additional, Knowles, James A, additional, Cohort, Genomic Psychiatry, additional, Fanous, Ayman H, additional, McCarroll, Steven A, additional, Gupta, Namrata, additional, Gabriel, Stacey B, additional, Daly, Mark J, additional, Lander, Eric S, additional, Lowenstein, Daniel H, additional, Goldstein, David B, additional, Berkovic, Samuel F, additional, and Neale, Benjamin M, additional

Published
2021
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35. Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study

Author

Scala, Marcello, primary, Schiavetti, Irene, additional, Madia, Francesca, additional, Chelleri, Cristina, additional, Piccolo, Gianluca, additional, Accogli, Andrea, additional, Riva, Antonella, additional, Salpietro, Vincenzo, additional, Bocciardi, Renata, additional, Morcaldi, Guido, additional, Di Duca, Marco, additional, Caroli, Francesco, additional, Verrico, Antonio, additional, Milanaccio, Claudia, additional, Viglizzo, Gianmaria, additional, Traverso, Monica, additional, Baldassari, Simona, additional, Scudieri, Paolo, additional, Iacomino, Michele, additional, Piatelli, Gianluca, additional, Minetti, Carlo, additional, Striano, Pasquale, additional, Garrè, Maria Luisa, additional, De Marco, Patrizia, additional, Diana, Maria Cristina, additional, Capra, Valeria, additional, Pavanello, Marco, additional, and Zara, Federico, additional

Published
2021
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36. TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy

Author

Falace, Antonio, Filipello, Fabia, Padula, Veronica La, Vanni, Nicola, Madia, Francesca, Tonelli, Davide De Pietri, Falco, Fabrizio A. de, Striano, Pasquale, Bricarelli, Franca Dagna, Minetti, Carlo, Benfenati, Fabio, Fassio, Anna, and Zara, Federico

Subjects
Gene expression -- Analysis, Gene mutations -- Analysis, Cerebral cortex -- Genetic aspects, Cerebral cortex -- Physiological aspects, Myoclonic epilepsy -- Genetic aspects, Biological sciences
Abstract

In situ hybridization analysis was performed to identify two compound heterozygous missense mutations (D147H and A509V) in TBC1d24, a gene of unknown function responsible for familial infantile myoclonic epilepsy (FIME) and which is mainly expressed at the level of the cerebral cortex and the hippocampus. The study identified a gene mutation involved in autosomal-recessive idiopathic epilepsy and provided insight into the involvement of ARF6-dependent molecular pathway in brain hyper-excitability and seizures and confirmed the emerging role of subtle cytoarchitectural alterations in the etiology of this group of common epileptic disorders.

Published
2010

41. Potential Role of miRNAs in the Acquisition of Chemoresistance in Neuroblastoma

Author

Marengo, Barbara, primary, Pulliero, Alessandra, additional, Corrias, Maria Valeria, additional, Leardi, Riccardo, additional, Farinini, Emanuele, additional, Fronza, Gilberto, additional, Menichini, Paola, additional, Monti, Paola, additional, Monteleone, Lorenzo, additional, Valenti, Giulia Elda, additional, Speciale, Andrea, additional, Perri, Patrizia, additional, Madia, Francesca, additional, Izzotti, Alberto, additional, and Domenicotti, Cinzia, additional

Published
2021
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42. Epilepsy Subtype-Specific Copy Number Burden Observed in a Genome-Wide Study of 17 458 Subjects

Author

Niestroj, Lisa-Marie, Perez-Palma, Eduardo, Howrigan, Daniel P., Zhou, Yadi, Cheng, Feixiong, Saarentaus, Elmo, Nürnberg, Peter, Stevelink, Remi, Daly, Mark J., Palotie, Aarno, Lal, Dennis, Feng, Yen-Chen Anne, Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Churchhouse, Claire, Gupta, Namrata, Neale, Benjamin M., Berkovic, Samuel F., Lerche, Holger, Goldstein, David B., Lowenstein, Daniel H., Cavalleri, Gianpiero L., Cossette, Patrick, Cotsapas, Chris, Dixon-Salazar, Tracy, Guerrini, Renzo, Hakonarson, Hakon, Heinzen, Erin L., Helbig, Ingo, Kwan, Patrick, Marson, Anthony G., Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, Krause, Roland, May, Patrick, McKenna, Kevin, Regan, Brigid M., Bellows, Susannah T., Leu, Costin, Bennett, Caitlin A., Johns, Esther C., Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O’Brien, Terence J., Todaro, Marian, Weckhuysen, Sarah, Stamberger, Hannah, De Jonghe, Peter, Andrade, Danielle M., Sadoway, Tara R., Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Šterbová, Katalin, Vlcková, Markéta, Sedlácková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Kunz, Wolfram S., Zsurka, Gábor, Elger, Christian E., Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, van Baalen, Andreas, von Spiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Becker, Felicitas, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F., Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, Schreiber, Herbert, Borggräfe, Ingo, Schankin, Christoph J., Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Auvinen, Pia, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sills, Graeme J., Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H. T., Barišic, Nina, Delanty, Norman, Doherty, Colin P., Shukralla, Arif, McCormack, Mark, El-Naggar, Hany, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Zara, Federico, Iacomino, Michele, Madia, Francesca, Vari, Maria Stella, Mancardi, Maria Margherita, Salpietro, Vincenzo, Bisulli, Francesca, Tinuper, Paolo, Licchetta, Laura, Pippucci, Tommaso, Stipa, Carlotta, Muccioli, Lorenzo, Minardi, Raffaella, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Marini, Carla, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Mameniskiene, Ruta, Utkus, Algirdas, Praninskiene, Ruta, Grikiniene, Jurgita, Samaitiene, Ruta, Sadleir, Lynette G., King, Chontelle, Mountier, Emily, Caglayan, S. Hande, Arslan, Mutluay, Yapici, Zuhal, Yis, Uluc, Topaloglu, Pinar, Kara, Bulent, Turkdogan, Dilsad, Gundogdu-Eken, Asli, Bebek, Nerses, Ugur-Iseri, Sibel, Baykan, Betül, Salman, Baris, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yesim, Özkara, Çigdem, Sheidley, Beth R., Shain, Catherine, Poduri, Annapurna, Buono, Russell J, Ferraro, Thomas N, Sperling, Michael R., Lo, Warren, Privitera, Michael, French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Khankhanian, Pouya, Helbig, Katherine L., Ellis, Colin A., Spalletta, Gianfranco, Piras, Fabrizio, Piras, Federica, Gili, Tommaso, Ciullo, Valentina, YÜCESAN, EMRAH, Niestroj L.-M., Perez-Palma E., Howrigan D.P., Zhou Y., Cheng F., Saarentaus E., Nurnberg P., Stevelink R., Daly M.J., Palotie A., Lal D, Epi 25 Collaborative, Bisulli F., Tinuper P., Licchetta L., and Epi25 Collaborative

Subjects
Developmental and epileptic encephalopathy, Male, 0301 basic medicine, DNA Copy Number Variations, Disease, Bioinformatics, Genome, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, copy number variation, developmental and epileptic encephalopathy, epilepsy, focal epilepsy, genetic generalized epilepsy, medicine, Humans, Genetic Predisposition to Disease, Copy-number variation, Generalized epilepsy, DNA Copy Number Variation, Copy number variation, business.industry, Breakpoint, Focal epilepsy, Original Articles, medicine.disease, 3. Good health, Genetic generalized epilepsy, 030104 developmental biology, Female, Human medicine, Neurology (clinical), Personalized medicine, business, 030217 neurology & neurosurgery, Genome-Wide Association Study, Human
Abstract

Cytogenic testing is routinely applied in most neurological centres for severe paediatric epilepsies. However, which characteristics of copy number variants (CNVs) confer most epilepsy risk and which epilepsy subtypes carry the most CNV burden, have not been explored on a genome-wide scale. Here, we present the largest CNV investigation in epilepsy to date with 10 712 European epilepsy cases and 6746 ancestry-matched controls. Patients with genetic generalized epilepsy, lesional focal epilepsy, non-acquired focal epilepsy, and developmental and epileptic encephalopathy were included. All samples were processed with the same technology and analysis pipeline. All investigated epilepsy types, including lesional focal epilepsy patients, showed an increase in CNV burden in at least one tested category compared to controls. However, we observed striking differences in CNV burden across epilepsy types and investigated CNV categories. Genetic generalized epilepsy patients have the highest CNV burden in all categories tested, followed by developmental and epileptic encephalopathy patients. Both epilepsy types also show association for deletions covering genes intolerant for truncating variants. Genome-wide CNV breakpoint association showed not only significant loci for genetic generalized and developmental and epileptic encephalopathy patients but also for lesional focal epilepsy patients. With a 34-fold risk for developing genetic generalized epilepsy, we show for the first time that the established epilepsy-associated 15q13.3 deletion represents the strongest risk CNV for genetic generalized epilepsy across the whole genome. Using the human interactome, we examined the largest connected component of the genes overlapped by CNVs in the four epilepsy types. We observed that genetic generalized epilepsy and non-acquired focal epilepsy formed disease modules. In summary, we show that in all common epilepsy types, 1.5–3% of patients carry epilepsy-associated CNVs. The characteristics of risk CNVs vary tremendously across and within epilepsy types. Thus, we advocate genome-wide genomic testing to identify all disease-associated types of CNVs.

Published
2020

48. Pediatric Diffuse Midline Gliomas H3 K27M-Mutant and Non-Histone Mutant Midline High-Grade Gliomas in Neurofibromatosis Type 1 in Comparison With Non-Syndromic Children: A Single-Center Pilot Study

Author

Garibotto, Federica, primary, Madia, Francesca, additional, Milanaccio, Claudia, additional, Verrico, Antonio, additional, Piccardo, Arnoldo, additional, Tortora, Domenico, additional, Piatelli, Gianluca, additional, Diana, Maria Cristina, additional, Capra, Valeria, additional, Garrè, Maria Luisa, additional, Rossi, Andrea, additional, and Morana, Giovanni, additional

Published
2020
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50. Precision medicine in early-onset epilepsy: the KCNQ2 paradigm

Author

Amadori, Elisabetta, primary, Brolatti, Noemi, additional, Scala, Marcello, additional, Marchese, Francesca, additional, Vari, Maria Stella, additional, Ramenghi, Luca Antonio, additional, Madia, Francesca, additional, Minetti, Carlo, additional, and Striano, Pasquale, additional

Published
2020
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