Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review

Autor: Antonina Fontana, Vincenzo Salpietro, Rosaria Nardello, Elisa Giorgio, Giuseppe Donato Mangano, Pasquale Striano, Salvatore Mangano, Vincenzo Antona, Alfredo Brusco

Publikováno v: Seizure. 85

KBG syndrome (OMIM #148050) is a rare autosomal dominant disorder, typically characterized by macrodontia of the upper central incisors, distinct craniofacial findings, short stature, and skeletal anomalies associated with neurological involvement in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::115574804da836c3bc1213880c708dd7
https://pubmed.ncbi.nlm.nih.gov/33476899

Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event?

Autor: Ettore Piro, Vincenzo Salpietro, Francesco Miceli, Rosaria Nardello, Giuseppe Donato Mangano, Antonina Fontana

Benign familial infantile epilepsy (BFIE) is the most genetically heterogeneous phenotype among early-onset familial infantile epilepsies. It has an autosomal dominant inheritance pattern with incomplete penetrance. Although PRRT2 is the most mutated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a310ff9973f08b1495b46f46f19085c
http://hdl.handle.net/10447/472649

The largest caucasian kindred with dentatorubral-pallidoluysian atrophy: A founder mutation in italy

Autor: Silvia Grimaldi, Livia Bernardi, Chiara Cupidi, Giuseppe Donato Mangano, Giuseppina Piccione, Raffaele Maletta, Salvatore Basiricò, Nicoletta Smirne, Enrico Grosso, Valentina Laganà, Amalia C. Bruni, Laura Orsi, Rosaria Nardello, Micaela Mitolo, Fabio Giacalone

BACKGROUND: Dentatorubral-pallidoluysian atrophy is a hereditary neurodegenerative disease prevalently reported in Japan but rare in Caucasians. The objective of this study was to reconstruct the pedigree of Italian dentatorubral-pallidoluysian atrop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0088bc2f16058e219eecd9733cbf2019
http://hdl.handle.net/11585/876652

The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.

Autor: Scorrano G; Department of Pediatrics, 'G. D'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy., David E; Department of Translational and Precision Medicine, 'Sapienza' University of Rome, 00161 Rome, Italy., Calì E; UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Chimenz R; Pediatric Nephrology and Dialysis Unit, University Hospital 'G. Martino', 98124 Messina, Italy., La Bella S; Department of Pediatrics, 'G. D'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy., Di Ludovico A; Department of Pediatrics, 'G. D'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy., Di Rosa G; Child Neuropsychiatry Unit, Department of Human Pathology in Adult and Developmental Age 'Gaetano Barresi', University of Messina, 98124 Messina, Italy., Gitto E; Neonatal and Pediatric Intensive Care Unit, Department of Human Pathology of the Adult and Developmental Age 'Gaetano Barresi', University of Messina, 98122 Messina, Italy., Mankad K; Department of Radiology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK., Nardello R; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities, 'G. D'Alessandro' University of Palermo, 90127 Palermo, Italy., Mangano GD; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities, 'G. D'Alessandro' University of Palermo, 90127 Palermo, Italy., Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy., Ceravolo G; UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.

Publikováno v: Genes [Genes (Basel)] 2023 Nov 22; Vol. 14 (12). Date of Electronic Publication: 2023 Nov 22.

KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.

Autor: Cioclu MC; Department of Epilepsy Genetics and Personalized Medicine (member of ERN EpiCARE), Danish Epilepsy Centre, Dianalund, Denmark.; Department of Biomedical, Metabolic, and Neural Science, University of Modena and Reggio Emilia, Modena, Italy., Mosca I; Department of Medicine and Health Sciences 'Vincenzo Tiberio', University of Molise, Campobasso, Italy., Ambrosino P; Dept. of Science and Technology, University of Sannio, Benevento, Italy., Puzo D; Department of Medicine and Health Sciences 'Vincenzo Tiberio', University of Molise, Campobasso, Italy., Bayat A; Department of Epilepsy Genetics and Personalized Medicine (member of ERN EpiCARE), Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Wortmann SB; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.; Amalia Children's Hospital, Nijmegen, The Netherlands., Koch J; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Shirai K; Department of Pediatrics, Tsuchiura Kyodo General Hospital, Tsuchiura, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Sanders SJ; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.; Institute for Human Genetics, University of California, San Francisco, CA, USA.; Bakar Computational Health Sciences Institute, University of California, San Francisco, CA, USA., Michaud V; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux, Bordeaux, France., Legendre M; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France., Riva A; IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Striano P; IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Muhle H; Department of Neuropediatrics, University Medical Centre Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany., Pendziwiat M; Department of Neuropediatrics, University Medical Centre Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany.; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany., Lesca G; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261-INSERM U1315, Lyon, France.; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France., Mangano GD; Department of Biomedicine, Neuroscience and Advanced Diagnostics, University of Palermo, Palermo, Italy., Nardello R; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro', University of Palermo, Palermo, Italy., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Møller RS; Department of Epilepsy Genetics and Personalized Medicine (member of ERN EpiCARE), Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Soldovieri MV; Department of Medicine and Health Sciences 'Vincenzo Tiberio', University of Molise, Campobasso, Italy., Rubboli G; Department of Epilepsy Genetics and Personalized Medicine (member of ERN EpiCARE), Danish Epilepsy Centre, Dianalund, Denmark.; University of Copenhagen, Copenhagen, Denmark., Taglialatela M; Department of Neuroscience, University of Naples 'Federico II', Naples, Italy.

Publikováno v: Annals of neurology [Ann Neurol] 2023 Aug; Vol. 94 (2), pp. 332-349. Date of Electronic Publication: 2023 May 22.