Depressive symptoms in children and adolescents with epilepsy and primary headache: a cross-sectional observational study

Autor: Grazia Maria Giovanna Pastorino, Miriam Olivieri, Andrea Viggiano, Rosaria Meccariello, Michele Roccella, Lucia Parisi, Emanuele Cerulli Irelli, Carlo Di Bonaventura, Alessandro Orsini, Francesca F. Operto

Publikováno v: Frontiers in Neurology, Vol 15 (2024)

BackgroundThe primary aims of our cross-sectional observational study were: (i) to determine the prevalence of depressive symptoms in children and adolescents with epilepsy compared to controls and (ii) to explore the difference in depressive symptom

Externí odkaz: https://doaj.org/article/36bd3a7c81a1497695d99286fc2fe1fb

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

Autor: Elisa Calì, Sheng-Jia Lin, Clarissa Rocca, Yavuz Sahin, Aisha Al Shamsi, Salima El Chehadeh, Myriam Chaabouni, Kshitij Mankad, Evangelia Galanaki, Stephanie Efthymiou, Sniya Sudhakar, Alkyoni Athanasiou-Fragkouli, Tamer Çelik, Nejat Narlı, Sebastiano Bianca, David Murphy, Francisco Martins De Carvalho Moreira, null Andrea Accogli, Cassidy Petree, Kevin Huang, Kamel Monastiri, Masoud Edizadeh, Rosaria Nardello, Marzia Ognibene, Patrizia De Marco, Martino Ruggieri, Federico Zara, Pasquale Striano, Yavuz Şahin, Lihadh Al-Gazali, Marie Therese Abi Warde, Benedicte Gerard, Giovanni Zifarelli, Christian Beetz, Sara Fortuna, Miguel Soler, Enza Maria Valente, Gaurav Varshney, Reza Maroofian, Vincenzo Salpietro, Henry Houlden, Michael G. Hannah, Enrico Bugiardini, Yamna Kriouile, Mohamed El Khorassani, Mhammed Aguennouz, Stanislav Groppa, Blagovesta Marinova Karashova, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Pierangelo Veggiotti, Alberto Verrotti, Salvatore Savasta, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Savvas Papacostas, Chiara Compagnoni, Alessandra Piccirilli, Michail Vikelis, Viorica Chelban, Rauan Kaiyrzhanov, Andrea Cortese, Roisin Sullivan, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, Shen-Yang Lim, Farooq Shaikh, Annarita Scardamaglia, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Massimo Zollo, Gali Heimer, Issam Al-Khawaja, Fuad Al-Mutairi, Fowzan S. Alkuraya, Mie Rizig, Chingiz Shashkin, Nazira Zharkynbekova, Kairgali Koneyev, Ganieva Manizha, Maksud Isrofilov, Ulviyya Guliyeva, Kamran Salayev, Samson Khachatryan, Georgia Xiromerisiou, Cleanthe Spanaki, Arianna Tucci, Chiara Fiorillo, Federico Rissotto, Francina Munell, Antonella Gagliano, Farida Jan, Roberto Chimenz, Eloisa Gitto, Caterina Cuppari, Carmelo Romeo, Francesca Magrinelli, Neerja Gupta, Madhulika Kabra, Hanene Benrhouma, Meriem Tazir, Luca Zagaroli, Claudia Caloisi, Cecilia Fabiano, Gabriella Bottone, Giovanni Farello, Sandra Di Fabio, Makram Obeid, Sophia Bakhtadze, Nebal W. Saadi, Maha S. Zaki, Chahnez C. Triki, Majdi Kara, Vincenzo Belcastro, Nicola Specchio, Ehsan G. Karimiani, Ahmed M. Salih, Luca A. Ramenghi, Emanuele David, Riccardo Curró, Maria Laura Iezzi, Giulia Iapadre, Giuliana Nanni, Giovanna Scorrano, Maria F. Fiorile, Francesco Brancati, Giovanna Di Falco, Luana Mandarà, Giuseppe Barrano, Maurizio Elia, Gaetano Terrone, Francesca F. Operto, Mariella Valenzise, Ylenia Della Rocca, Francesca Zazzeroni, Edoardo Alesse, Filippo Manti, Serena Galosi, Francesca Nardecchia, Vincenzo Leuzzi, Erica Pironti, Greta Amore, Giorgia Ceravolo, Faisal Zafar, Ehsan Ullah, Erum Afzal, Iram Javed, Fatima Rahman, Muhammad Mehboob Ahmed, Pasquale Parisi, Paola Borgia, Giuseppe D. Mangano, Francesco Chiarelli, Queen Square Genomics

Purpose: The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. In this study, we identified a recurrent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3ad32ae43b493e4ed17edb86a09aa52
https://hdl.handle.net/20.500.12445/2759

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Autor: Bassani S; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland.; Present address: Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Chrast J; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland., Ambrosini G; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.; Bioinformatics Competence Center, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland., Voisin N; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland.; Present address: Sophia Genetics, St Sulpice, Switzerland., Schütz F; Biostatistics Platform, University of Lausanne, Lausanne, Switzerland., Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, 10126, Turin, Italy.; Medical Genetics Unit, Città Della Salute E Della Scienza University Hospital, 10126, Turin, Italy., Sirchia F; Department of Neurosciences Rita Levi-Montalcini, University of Turin, 10126, Turin, Italy.; Medical Genetics Unit, Città Della Salute E Della Scienza University Hospital, 10126, Turin, Italy.; Present address: Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Present address: Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy., Turban L; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Schubert S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Schlump JU; Department of Pediatrics, Centre for Neuromedicine, Gemeinschaftskrankenhaus Herdecke Gerhard-Kienle-Weg, Herdecke, Germany., DeMille D; Genomics Analysis 396, ARUP Laboratories, Salt Lake City, UT, USA., Bayrak-Toydemir P; Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Nelson GR; Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Wong KN; Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Duncan L; Department of Pediatrics, Medical Center North, Vanderbilt University Medical Center, Nashville, TN, USA.; Present address: Mayo Clinic, Rochester, MN, USA., Mosera M; Department of Pediatrics, Medical Center North, Vanderbilt University Medical Center, Nashville, TN, USA., Gilissen C; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Kersseboom R; Center for Genetic Developmental Disorders Southwest, Zuidwester, Middelharnis, The Netherlands., Yttervik H; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway., Hansen GÅM; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway., Smeland MF; Department of Pediatric Rehabilitation, University Hospital of North Norway, Tromsø, Norway., Butler KM; Greenwood Genetic Center, Greenwood, SC, USA., Lyons MJ; Greenwood Genetic Center, Greenwood, SC, USA., Carvalho CMB; Pacific Northwest Research Institute (PNRI), Broadway, Seattle, WA, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Zhang C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Flores-Gallegos L; Hospital Ángeles Puebla, Puebla, Mexico., Morales-Toquero R; Hospital Ángeles Puebla, Puebla, Mexico., Petit F; CHU Lille, Clinique de Génétique, 59000, Lille, France., Yalcin B; Inserm UMR1231, University of Burgundy, 21000, Dijon, France., Tuttle A; GeneDx, Gaithersburg, MD, USA., Elloumi HZ; GeneDx, Gaithersburg, MD, USA., McCormick L; Department of Genetics, Cook Children's Medical Center, Cook Children's Health Care System, Fort Worth, TX, USA., Kukolich M; Department of Genetics, Cook Children's Medical Center, Cook Children's Health Care System, Fort Worth, TX, USA., Klaas O; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Horvath J; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Scala M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, 16132, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Iacomino M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Operto F; Department of Medicine, Child and Adolescent Neuropsychiatry Unit, Surgery and Dentistry, University of Salerno, Salerno, Italy., Zara F; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, 16132, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Writzl K; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Maver A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Haanpää MK; Department of Genomics, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland., Pohjola P; Department of Genomics, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland., Arikka H; Department of Pediatric Neurology, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland., Kievit AJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Calandrini C; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Iseli C; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.; Bioinformatics Competence Center, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland., Guex N; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.; Bioinformatics Competence Center, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland., Reymond A; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland. alexandre.reymond@unil.ch.

Publikováno v: Genome medicine [Genome Med] 2024 May 30; Vol. 16 (1), pp. 72. Date of Electronic Publication: 2024 May 30.

Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series.

Autor: Dell'Isola GB; Pediatric Clinic, Department of Surgical and Biomedical Sciences, University of Perugia, Perugia, Italy. Electronic address: giovanni.dellisola@gmail.com., Mencaroni E; Pediatric Clinic, Department of Surgical and Biomedical Sciences, University of Perugia, Perugia, Italy., Prontera P; Medical Genetics Unit, Hospital Santa Maria della Misericordia, Perugia, Italy., Cara GD; Pediatric Clinic, Department of Surgical and Biomedical Sciences, University of Perugia, Perugia, Italy., Ferraro L; Pediatric Clinic, Department of Surgical and Biomedical Sciences, University of Perugia, Perugia, Italy., Bonanni P; Epilepsy Unit, IRCCS Eugenio Medea Scientific Institute, Conegliano, Italy., Carotenuto M; Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health and Physical and Preventive Medicine, Luigi Vanvitelli University, Caserta, Italy., Iapadre G; Department of Pediatrics, University of Aquila, Italy., Matricardi S; Child Neurology and Psychiatry Unit, Ospedali Riuniti Ancona, 'G. Salesi' Children's Hospital, Ancona, Italy., Operto F; Child Neuropsychiatry Unit, Department of Medicine, Surgery, and Dentistry, University of Salerno, Salerno, Italy., Orsini A; Pediatric Neurology, Pediatric University Department, Azienda Ospedaliera Universitaria Pisana, University of Pisa, Pisa, Italy., Parisi P; Chair of Pediatrics, Department of Neuroscience, Mental Health and Sense Organs (NESMOS), Faculty of Medicine & Psychology, Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy., Pavone P; Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy., Salpietro V; Department of Pediatrics, University of Aquila, Italy., Savasta S; Pediatric Unit, Hospital ASST of Crema, Crema, Italy., Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS 'G. Gaslini' Institute, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy., Verrotti A; Pediatric Clinic, Department of Surgical and Biomedical Sciences, University of Perugia, Perugia, Italy.

Publikováno v: Seizure [Seizure] 2022 Nov; Vol. 102, pp. 32-35. Date of Electronic Publication: 2022 Sep 17.

Perampanel effectiveness and tolerability in patients with epilepsy at long-term follow-up.

Autor: Fernandes M; Epilepsy Centre, Department of Systems Medicine, University of Rome 'Tor Vergata', Rome, Italy; Neurology Unit, University Hospital of Rome 'Tor Vergata', Rome, Italy., Dainese F; Epilepsy Centre, Neurologic Unit, SS.Giovanni e Paolo Hospital, Venice, Italy., Operto F; Child and Adolescent Neuropsychiatry, Medical School, University of Salerno, Italy., Lattanzi S; Neurological Clinic, Department of Experimental and Clinical Medicine, Marche Polytechnic University, Ancona, Italy., Matricardi S; Department of Child Neuropsychiatry, Children's Hospital 'G. Salesi', Ospedali Riuniti Ancona, Italy., Renna R; Neurological Clinic and Stroke Unit, 'A. Cardarelli' Hospital, Naples, Italy; Outpatient Clinic for Epilepsy, 'A. Cardarelli' Hospital, Naples, Italy., Placidi F; Epilepsy Centre, Department of Systems Medicine, University of Rome 'Tor Vergata', Rome, Italy; Neurology Unit, University Hospital of Rome 'Tor Vergata', Rome, Italy., Paladin F; Epilepsy Centre, Neurologic Unit, SS.Giovanni e Paolo Hospital, Venice, Italy., Pastorino GMG; Child and Adolescent Neuropsychiatry, Medical School, University of Salerno, Italy., Foschi N; Neurological Clinic, Department of Experimental and Clinical Medicine, Marche Polytechnic University, Ancona, Italy., Cesaroni E; Department of Child Neuropsychiatry, Children's Hospital 'G. Salesi', Ospedali Riuniti Ancona, Italy., Mercuri NB; Neurology Unit, University Hospital of Rome 'Tor Vergata', Rome, Italy; IRCCS Fondazione Santa Lucia, Rome, Italy., Liguori C; Epilepsy Centre, Department of Systems Medicine, University of Rome 'Tor Vergata', Rome, Italy; Neurology Unit, University Hospital of Rome 'Tor Vergata', Rome, Italy. Electronic address: dott.claudioliguori@yahoo.it.

Publikováno v: Epilepsy & behavior : E&B [Epilepsy Behav] 2021 Aug; Vol. 121 (Pt A), pp. 108069. Date of Electronic Publication: 2021 May 30.