Zobrazeno 1 - 10
of 1 762
pro vyhledávání: '"Cusmai, R."'
Autor:
De Liso, P., Vigevano, F., Specchio, N., De Palma, L., Bonanni, P., Osanni, E., Coppola, G., Parisi, P., Grosso, S., Verrotti, A., Spalice, A., Nicita, F., Zamponi, N., Siliquini, S., Giordano, L., Martelli, P., Guerrini, R., Rosati, A., Ilvento, L., Belcastro, V., Striano, P., Vari, M.S., Capovilla, G., Beccaria, F., Bruni, O., Luchetti, A., Gobbi, G., Russo, A., Pruna, D., Tozzi, A.E., Cusmai, R.
Publikováno v:
In Epilepsy Research November 2016 127:93-100
Autor:
De Giorgis V; Department of Brain and Behaviour Neuroscience, University of Pavia, Pavia, Italy.; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Tagliabue A; Department of Public Health, Human Nutrition and Eating Disorder Research Center and Ketogenic Metabolic Therapy Laboratory-Experimental and Forensic Medicine University of Pavia, Pavia, Italy., Bisulli F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Full Member of the European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Brambilla I; Endocrinologia, Diabetologia e Ginecologia Pediatrica, Fondazione IRCCS Policlinico San Matteo di Pavia, Università degli Studi di Pavia, Pavia, Italy., Camerini A; Italian GLUT1-DS Association, Milan, Italy., Cusmai R; Child Neurology Unit, Department of Neuroscience and Neurorehabilitation, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy., Darra F; Child Neuropsychiatry Unit, Department of Engineering for Innovation Medicine, University of Verona, Full Member of European Reference Network EpiCARE, Verona, Italy., Dianin A; Inherited Metabolic Diseases Unit and Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, Verona, Italy., Domenica E; Artificial Nutrition Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Lodi MAM; Department of Child Neuropsychiatry, Epilepsy Center, Fatebenefratelli Hospital, Milan, Italy., Matricardi S; Department of Pediatrics, University of Chieti, Chieti, Italy., Messana T; Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'etá pediatrica, Member of the ERN Epicare, Bologna, Italy., Operto F; Department of Science of Health, School of Medicine, University Magna Graecia of Catanzaro, Catanzaro, Italy., Ragona F; Department of Pediatric Neurology, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy., Russo E; Science of Health Department, University of Catanzaro, Catanzaro, Italy., Varesio C; Department of Brain and Behaviour Neuroscience, University of Pavia, Pavia, Italy.; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Volpi L; UOC Neurologia, IRCCS Istituto delle Scienze Neurologiche, Azienda USL di Bologna, Ospedale Bellaria Bologna, Bologna, Italy., Zanaboni MP; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Pasca L; Department of Brain and Behaviour Neuroscience, University of Pavia, Pavia, Italy.; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Veggiotti P; Vittore Buzzi Children's Hospital, Pediatric Neurology Unit, Milan, Italy.; Department of Biomedical and Clinical Sciences, L. Sacco, University of Milan, Milan, Italy.
Publikováno v:
Frontiers in neurology [Front Neurol] 2023 Jul 10; Vol. 14, pp. 1215618. Date of Electronic Publication: 2023 Jul 10 (Print Publication: 2023).
Autor:
Pepi, C. *, Cesaroni, E., Striano, P., Maiorani, D., Pruna, D., Cossu, S., Di Capua, M., Vigevano, F., Specchio, N., Cusmai, R.
Publikováno v:
In Seizure: European Journal of Epilepsy December 2019 73:79-82
Autor:
Manara, R, D'Agata, L, Rocco, Mc, Cusmai, R, Freri, E, Pinelli, L, Darra, Francesca, Procopio, E, Mardari, R, Zanus, C, Di Rosa, G, Soddu, C, Severino, M, Ermani, M, Longo, D, Sartori, S, Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases: Toldo, I, Peruzzi, C, Vittorini, R, Spalice, A, Fusco, C, Nosadini, M, Farina, L, Stecco, A, Polonara, G, Donati, Ma, Giordano, L, Dionisi Vici, C, Martinelli, D, Tocchet, A, Fariello, G, Nicita, F, Frattini, D, Martelli, P, Cantalupo, Gaetano, Zennaro, F.
Publikováno v:
AJNR Am J Neuroradiol
Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. The first part of this retrospective and review
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28967a1da0d66985f44acfe99ae8f29a
https://europepmc.org/articles/PMC7963639/
https://europepmc.org/articles/PMC7963639/
Autor:
Manara, R, Rocco, M C, D'Agata, L, Cusmai, R, Freri, E, Giordano, L, Darra, F, Procopio, E, Toldo, I, Peruzzi, C, Vittorini, R, Spalice, A, Fusco, C, Nosadini, M, Longo, D, Sartori, S, Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases, Mardari, R, Zanus, C, Di Rosa, G, Soddu, C, Severino, M, Ermani, M, Farina, L, Stecco, A, Polonara, G, Donati, Ma, Pinelli, L, Dionisi-Vici, C, Martinelli, D, Tocchet, A, Fariello, G, Nicita, F, Frattini, D, Martelli, P, Cantalupo, G, Zennara, F
Publikováno v:
AJNR Am J Neuroradiol
This is the second part of a retrospective and review MR imaging study aiming to define the frequency rate, timing, imaging features, and evolution of gray matter changes in Menkes disease, a rare multisystem X-linked disorder of copper metabolism ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abc107bc1d0998ad2013ac94b781aaa3
https://europepmc.org/articles/PMC7963635/
https://europepmc.org/articles/PMC7963635/
Autor:
Manara, Renzo, Rocco, M. C., D'Agata, Lauracarmen, Cusmai, R., Freri, E., Giordano, L., Darra, F., Procopio, E., Toldo, Irene, Peruzzi, C., Vittorini, R., Spalice, A., Fusco, Cecilia, Nosadini, Margherita, Longo, D., Sartori, S.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3657::4609b979e36a79eaf7138a42c44c065f
http://hdl.handle.net/11577/3243137
http://hdl.handle.net/11577/3243137
Autor:
Romaniello, R., Arrigoni, F., Panzeri, E., Poretti, A., Micalizzi, A., Citterio, A., Bedeschi, M. F., Berardinelli, A., Cusmai, R., D'Arrigo, S., Ferraris, A., Hackenberg, A., Kuechler, A., Mancardi, M., Nuovo, S., Oehl-Jaschkowitz, B., Rossi, A., Signorini, S., Tuttelmann, F., Wahl, D., Hehr, U., Boltshauser, E., Bassi, M. T., Valente, E. M., Borgatti, R.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3686::21e57154e6d469f4a0253970397e8b7a
http://hdl.handle.net/11573/1540325
http://hdl.handle.net/11573/1540325
Autor:
Castle AMR; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada., Salian S; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada., Bassan H; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada., Sofrin-Drucker E; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada., Cusmai R; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada., Herman KC; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada., Heron D; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada., Keren B; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada., Johnstone DL; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada., Mears W; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada., Morlot S; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada., Nguyen TTM; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada., Rock R; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada., Stolerman E; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada., Russo J; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada., Burns WB; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada., Jones JR; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada., Serpieri V; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada., Wallaschek H; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada., Zanni G; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada., Dyment DA; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada., Campeau PM; Department of Genetics (A.M.R.C., D.A.D.), Children's Hospital of Eastern Ontario, Ottawa; CHU Sainte Justine Research Centre (S.S., T.T.M.N., P.M.C.), Université de Montréal, Quebec, Canada; Pediatric Neurology & Development Center (H.B.), Shamir (Assaf Harofeh) Medical Center, Zerifin, Tel Aviv University; Pediatric Genetics Clinic (E.S.-D.), Schneider Children's Medical Centre, Petach Tikya, Tel Aviv University, Israel; Unit of Neurophysiology, Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; Section of Medical Genomics (K.C.H.), Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento; APHP (B.K.), Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France; APHP Sorbonne-Université (D.H.), UF Génétique Médicale, Hôpitaux Pitié-Salpêtrière et Trousseau, Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France; Children's Hospital of Eastern Ontario Research Institute (D.L.J., W. M., D.A.D.), Ottawa, Canada; Department of Human Genetics (S.M., H.W.), Hannover Medical School, Germany; Biochemical Diseases (R.R.), BC Children's Hospital, Vancouver, British Columbia, Canada; Greenwood Genetic Center (E.S., J.R., W.B.B., J.R.J.), SC; Department of Molecular Medicine (V.S.), University of Pavia; Neurogenetics Research Center (V.S.), IRCCS Mondino Foundation, Pavia; Unit of Neuromuscular and Neurodegenerative Disorders (G.Z.), Department of Neurosciences, IRCCS, Bambino Gesù Research Hospital, Rome, Italy; and Medical Genetics Division (P.M.C.), Department of Pediatrics, Sainte-Justine University Hospital Centre, Montreal, Quebec, Canada.
Publikováno v:
Neurology. Genetics [Neurol Genet] 2021 Oct 21; Vol. 7 (6), pp. e631. Date of Electronic Publication: 2021 Oct 21 (Print Publication: 2021).
Autor:
Maiorana A; Division of Metabolism, Department of Pediatric Subspecialties, Ospedale Pediatrico Bambino Gesù, IRCSS, Piazza S. Onofrio 4, 00165, Rome, Italy. arianna.maiorana@opbg.net., Caviglia S; Psychology Clinic Unit, Department of Neuroscience, Ospedale Pediatrico Bambino Gesù, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy., Greco B; Psychology Clinic Unit, Department of Neuroscience, Ospedale Pediatrico Bambino Gesù, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy., Alfieri P; Child and Adolescent Psychiatric Unit, Department of Neuroscience, Ospedale Pediatrico Bambino Gesù, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy., Cumbo F; Child and Adolescent Psychiatric Unit, Department of Neuroscience, Ospedale Pediatrico Bambino Gesù, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy., Campana C; Division of Metabolism, Department of Pediatric Subspecialties, Ospedale Pediatrico Bambino Gesù, IRCSS, Piazza S. Onofrio 4, 00165, Rome, Italy., Bernabei SM; Division of Artificial Nutrition, Ospedale Pediatrico Bambino Gesù, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy., Cusmai R; Neurology Unit, Department of Neuroscience, Ospedale Pediatrico Bambino Gesù, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy., Mosca A; Department of Hepatology, Gastroenterology and Nutrition, Ospedale Pediatrico Bambino Gesù, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy., Dionisi-Vici C; Division of Metabolism, Department of Pediatric Subspecialties, Ospedale Pediatrico Bambino Gesù, IRCSS, Piazza S. Onofrio 4, 00165, Rome, Italy.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Oct 11; Vol. 16 (1), pp. 424. Date of Electronic Publication: 2021 Oct 11.
Autor:
Verrotti A, Cusmai R, Laino D, CAROTENUTO, Marco, ESPOSITO, Maria, Falsaperla R, Margari L, Rizzo R, Savasta S, Grosso S, Striano P, Belacastro V, Franzoni E, Curatolo P, Giordano L, Freri E, Matricardi S, Pruna D, Toldo I, Tozzi E, Lobefalo L, Operto F, Altobelli E, Chiarelli F, Spalice A.
Prader-Willi syndrome is a multisystemic genetic disorder that can be associated with epilepsy. There is insufficient information concerning the clinical and electroencephalographic characteristics of epilepsy and the long-term outcome of these patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3977::fb361ced50be2076b255f4f36f14de77
http://hdl.handle.net/11591/191966
http://hdl.handle.net/11591/191966