AUTS2-related syndrome: Insights from a large European cohort

Authors: Loberti, Lorenzo ^{1, 2, 3}, Adamo, Loredaria ^{1, 2}, Antolini, Enrica ^{1, 2}, Casamassima, Giulia ^{1, 2}, Destrèe, Anne ⁴, Brunetti-Pierri, Nicola ^{5, 6, 7}, Genevieve, David ⁸, Christophe, Philippe ^{9, 10}, Coubes, Christine ¹¹, Van Esch, Hilde ¹², Herget, Theresia ¹³, Kortüm, Fanny ¹³, Lisfeld, Jasmin ¹³, Möllring, Anna Charlotte ¹³, Zenker, Martin ¹⁴, Levy, Jonathan ¹⁵, Perrin, Laurence ¹⁵, Tabet, Anne-Claude ¹⁵, Maruani, Anna ¹⁶, Sorlin, Arthur ¹⁷, Stieber, Daniel ¹⁷, Herissant, Lucas ¹⁷, Dahan, Karin ¹⁷, Sinibaldi, Lorenzo ¹⁸, Capolino, Rossella ¹⁸, Dentici, Maria Lisa ¹⁸, Dallapiccola, Bruno ¹⁸, Novelli, Antonio ¹⁸, Garavelli, Livia ¹⁹, Caraffi, Stefano Giuseppe ¹⁹, Piatelli, Gianluca ²⁰, Valenzuela, Irene ²¹, Digilio, Maria Cristina ¹⁸, Caumes, Roseline ²², Knopp, Cordula ²³, Chwiałkowska, Karolina ^{24, 25}, Jezela-Stanek, Aleksandra ^{24, 26}, Kwasniewski, Miroslaw ^{24, 25}, Korotko, Urszula ^{24, 25}, Gorzałczyńska, Ewelina ²⁴, Canitano, Roberto ²⁷, Grosso, Salvatore ²⁸, Rahikkala, Elisa ²⁹, Mattern, Larissa ²³, Elbracht, Miriam ²³, Zuffardi, Orsetta ³⁰, Caputo, Valentina ^{1, 2, 3}, Toschi, Benedetta ³¹, Beunders, Gea ³², Leeuwen, Lisette ³², Elting, Mariet W. ³³, van der Laan, Liselot ³³, Broekema, Marjoleine F. ³³, Groffen, Alexander J. ³³, van de Kamp, Jiddeke M. ³³, van Haelst, Mieke M. ³³, Alders, Marielle ³³, Mauro, Salvatore Pietro ³⁴, De Razza, Francesca ³⁴, Varvara, Dora ³⁴, Kick, Johanna ³⁵, Gaspar, Harald ³⁵, Braun, Dominique ³⁵, Lausberg, Eva ²³, Maier, Andrea ³⁶, Ruault, Valentin ³⁷, Genesio, Rita ³⁸, Tartaglia, Marco ³⁹, Tita, Rossella ³, Bruttini, Mirella ^{1, 2, 3}, Longo, Ilaria ³, Baldassarri, Margherita ^{1, 2, 3}, Mencarelli, Maria Antonietta ³, Renieri, Alessandra ^{1, 2, 3}, Pinto, Anna Maria ^{3, ∗}

Source: In Genetics in Medicine February 2025

Pediatric Scleritis: An Update

Authors: Tarsia, Maria, Gaggiano, Carla, Gessaroli, Elisa, Grosso, Salvatore, Tosi, Gian Marco, Frediani, Bruno, Cantarini, Luca, Fabiani, Claudia

Source: Ocular immunology and inflammation. 31(1):175-184

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100172685418.0x000001&indx=1&recIds=ETOCvdc_100172685418.0x000001

YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse

Authors: Denommé-Pichon, Anne-Sophie, Collins, Stephan C., Bruel, Ange-Line, Mikhaleva, Anna, Wagner, Christel, Vancollie, Valerie E., Thomas, Quentin, Chevarin, Martin, Weber, Mathys, Prada, Carlos E., Overs, Alexis, Palomares-Bralo, María, Santos-Simarro, Fernando, Pacio-Míguez, Marta, Busa, Tiffany, Legius, Eric, Bacino, Carlos A., Rosenfeld, Jill A., Le Guyader, Gwenaël, Egloff, Matthieu, Le Guillou, Xavier, Mencarelli, Maria Antonietta, Renieri, Alessandra, Grosso, Salvatore, Levy, Jonathan, Dozières, Blandine, Desguerre, Isabelle, Vitobello, Antonio, Duffourd, Yannis, Lelliott, Christopher J., Thauvin-Robinet, Christel, Philippe, Christophe, Faivre, Laurence, Yalcin, Binnaz

Source: In Genetics in Medicine July 2023 25(7)

Case Report: White–Sutton syndrome and cannabidiol, an update on a reported patient with a successful response to off--label therapy.

Authors: Perilli, Lorenzo, Carbone, Samanta, Minerva, Michele, Rossi, Margherita Maria, Curcio, Maria Rosaria, Lotti, Federica, Grosso, Salvatore

Source: Frontiers in Pediatrics; 2025, p1-5, 5p

Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings.

Authors: Minerva, Michele, Perilli, Lorenzo, Carbone, Samanta, Rossi, Margherita Maria, Lotti, Federica, Lonoce, Luisa, Curcio, Maria Rosaria, Grosso, Salvatore

Source: Neurology International; Jan2025, Vol. 17 Issue 1, p14, 8p

Subject Terms: ZINC-finger proteins, MYOCLONUS, CYTOPLASMIC inheritance, X chromosome, GENETIC testing

Clinical Presentations of Celiac Disease: Experience of a Single Italian Center.

Authors: Trovato, Chiara Maria, Ferretti, Francesca, Delli Bovi, Anna Pia, Elefante, Giovanna, Ancinelli, Monica, Bolasco, Giulia, Capriati, Teresa, Cardile, Sabrina, Knafelz, Daniela, Bracci, Fiammetta, Alterio, Arianna, Malamisura, Monica, Grosso, Salvatore, De Angelis, Paola, Diamanti, Antonella

Source: Nutrients; Jan2025, Vol. 17 Issue 1, p129, 9p

Appropriate use of generic and branded antiseizure medications in epilepsy: Updated recommendations from the Italian League Against Epilepsy (LICE)

Authors: Roberti, Roberta, Casarella, Alessandro, Iudice, Alfonso, La Neve, Angela, Beghi, Ettore, Capovilla, Giuseppe, Di Bonaventura, Carlo, Giorgi, Filippo S., Grosso, Salvatore, Iannone, Luigi F., Romigi, Andrea, Specchio, Luigi M., Zaccara, Gaetano, Mecarelli, Oriano, Russo, Emilio

Source: In Epilepsy & Behavior March 2021 116

MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype

Authors: Giliberti, Annarita, Currò, Aurora, Papa, Filomena Tiziana, Frullanti, Elisa, Ariani, Francesca, Coriolani, Gianni, Grosso, Salvatore, Renieri, Alessandra, Mari, Francesca

Source: In European Journal of Medical Genetics January 2020 63(1)

The current status of biological treatment for uveitis

Authors: Gaggiano, Carla, Sota, Jurgen, Gentileschi, Stefano, Caggiano, Valeria, Grosso, Salvatore, Tosi, Gian Marco, Frediani, Bruno, Cantarini, Luca, Fabiani, Claudia

Source: Expert review of clinical immunology. 16(8):787-811

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100110707132.0x000001&indx=1&recIds=ETOCvdc_100110707132.0x000001

Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome

Authors: Ferranti, Silvia, Lo Rizzo, Caterina, Renieri, Alessandra, Galluzzi, Paolo, Grosso, Salvatore

Source: Neurological sciences. 41(11):3345-3348

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100175982793.0x000001&indx=1&recIds=ETOCvdc_100175982793.0x000001

17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization

Authors: Romano, Chiara, Ferranti, Silvia, Mencarelli, Maria Antonietta, Longo, Ilaria, Renieri, Alessandra, Grosso, Salvatore

Source: Neurological sciences. 41(8):2259-2262

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168190930.0x000001&indx=1&recIds=ETOCvdc_100168190930.0x000001

Treating juvenile idiopathic arthritis (JIA)-related uveitis beyond TNF-α inhibition: a narrative review

Authors: Gaggiano, Carla, Rigante, Donato, Tosi, Gian Marco, Vitale, Antonio, Frediani, Bruno, Grosso, Salvatore, Fabiani, Claudia, Cantarini, Luca

Source: Clinical rheumatology. 39(2):327-337

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100161800309.0x000001&indx=1&recIds=ETOCvdc_100161800309.0x000001

Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice.

Authors: Amato, María Eugenia, Darling, Alejandra, Stovickova, Lucie, Attard, Stephen, Eggink, Hendriekje, Engelen, Marc, Freilinger, Michael, Grosso, Salvatore, Hadzsiev, Kinga, Moroni, Isabella, Nardocci, Nardo, Neubauer, David, Nicita, Francesco, Pagliano, Emanuela, Siegert, Sandy, Soler, Doriette, van de Pol, Laura A., Vasco, Gessica, Vidailhet, Marie, Willemsen, Michel AAP.

Source: European Journal of Paediatric Neurology; Sep2024, Vol. 52, p10-19, 10p

Subject Terms: TRANSITIONAL care, MOVEMENT disorders, CHILD patients, NEUROLOGICAL disorders, GENETIC disorder diagnosis

The Role of Biologic Agents in the Management of Pediatric-Onset Noninfectious Posterior Scleritis.

Authors: Gaggiano, Carla, Berlengiero, Virginia, Vitale, Antonio, Tarsia, Maria, Grosso, Salvatore, Tosi, Gian Marco, Ricci, Francesca, Sota, Jurgen, Caggiano, Valeria, Frediani, Bruno, Cantarini, Luca, Cattalini, Marco, Fabiani, Claudia

Source: Ocular Immunology & Inflammation; Aug2024, Vol. 32 Issue 6, p877-883, 7p

Subject Terms: BIOLOGICALS, PEDIATRIC ophthalmology, VISION, SCLERITIS, TREATMENT duration

24-h continuous non-invasive multiparameter home monitoring of vitals in patients with Rett syndrome by an innovative wearable technology: evidence of an overlooked chronic fatigue status.

Authors: Leoncini, Silvia, Boasiako, Lidia, Di Lucia, Sofia, Beker, Amir, Scandurra, Valeria, Vignoli, Aglaia, Canevini, Maria Paola, Prato, Giulia, Nobili, Lino, Nicotera, Antonio Gennaro, Di Rosa, Gabriella, Testa Chiarini, Maria Beatrice, Cutrera, Renato, Grosso, Salvatore, Lazzeri, Giacomo, Tongiorgi, Enrico, Morano, Pasquale, Botteghi, Matteo, Barducci, Alessandro, De Felice, Claudio

Source: Frontiers in Neurology; 2024, p1-27, 27p

Subject Terms: RETT syndrome, FATIGUE (Physiology), WEARABLE technology, PARASYMPATHETIC nervous system, SYMPATHETIC nervous system, CANCER fatigue

Geographic Terms: L'AQUILA (Italy)

Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome)

Authors: Tambasco, Nicola, Paoletti, Federico Paolini, Prato, Giulia, Mancardi, Maria Margherita, Prontera, Paolo, Giordano, Lucio, Grosso, Salvatore, Romeo, Antonino, Pinto, Francesca, Savasta, Salvatore, Peruzzi, Cinzia, Romoli, Michele, Striano, Pasquale, Verrotti, Alberto, Belcastro, Vincenzo

Source: In European Journal of Paediatric Neurology November 2018 22(6):1081-1086

Electroencephalographic and epilepsy findings in mecp2 duplication syndrome. A family study

Authors: Lotti, Federica, Geronzi, Ursula, Grosso, Salvatore

Source: Brain & development. 41(5):456-459

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100078797035.0x000001&indx=1&recIds=ETOCvdc_100078797035.0x000001

Treatment options for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome in children and adults: a narrative review

Authors: Gaggiano, Carla, Rigante, Donato, Sota, Jurgen, Grosso, Salvatore, Cantarini, Luca

Source: Clinical rheumatology. 38(1):11-17

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185493257.0x000001&indx=1&recIds=ETOCvdc_100185493257.0x000001

Pediatric ultrasound practice in Italy: an exploratory survey.

Authors: Musolino, Anna Maria, Tei, Monica, De Rose, Cristina, Buonsenso, Danilo, Supino, Maria Chiara, Zampogna, Stefania, Staiano, Annamaria, Raponi, Massimiliano, Amendolea, Antonella, Colacino, Vincenzo, Gori, Laura, Manganaro, Alessandro, Ricci, Riccardo, D'Inzeo, Victoria, Grosso, Salvatore, Villani, Alberto, Agostiniani, Rino

Source: Italian Journal of Pediatrics; 6/9/2024, Vol. 50 Issue 1, p1-9, 9p

Subject Terms: PNEUMONIA, PEDIATRICIANS, HUMAN services programs, PROFESSIONAL practice, QUESTIONNAIRES, URINARY organs, ULTRASONIC imaging, LUNGS, HOSPITAL medical staff, RESEARCH, PROBLEM-based learning, PSYCHOSOCIAL factors, KIDNEYS

Geographic Terms: ITALY

Should We Rule out Celiac Disease in Recurrent Headache Disorders? A Review of the Literature.

Authors: Perilli, Lorenzo, Carbone, Samanta, Novelletto, Luca Franco, Santangelo, Andrea, Curcio, Maria Rosaria, Lotti, Federica, Grosso, Salvatore

Source: Journal of Clinical Medicine; May2024, Vol. 13 Issue 9, p2615, 9p

Subject Terms: CELIAC disease, GLUTEN-free diet, MIGRAINE, HEADACHE, SYMPTOMS