Research ArticleORIGINAL RESEARCH
Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study
Ludovica Pasca, Filippo Arrigoni, Romina Romaniello, Maria Savina Severino, Davide Politano, Fulvio D’Abrusco, Jessica Garau, Valentina De Giorgis, Adriana Carpani, Sabrina Signorini, Simona Orcesi, Felice D’Arco, Enrico Alfei, Elisa Cattaneo, Elisa Rognone, Sara Uccella, Maria Teresa Divizia, Paolo Infantino, Enza Maria Valente, Renato Borgatti and Anna Pichiecchio
American Journal of Neuroradiology October 2024, ajnr.A8450; DOI: https://doi.org/10.3174/ajnr.A8450
Ludovica Pasca
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Filippo Arrigoni
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Romina Romaniello
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Maria Savina Severino
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Davide Politano
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Fulvio D’Abrusco
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Jessica Garau
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Valentina De Giorgis
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Adriana Carpani
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Sabrina Signorini
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Simona Orcesi
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Felice D’Arco
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Enrico Alfei
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Elisa Cattaneo
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Elisa Rognone
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Sara Uccella
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Maria Teresa Divizia
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Paolo Infantino
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Enza Maria Valente
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Renato Borgatti
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
Anna Pichiecchio
From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).
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Accepted Manuscript
Ludovica Pasca, Filippo Arrigoni, Romina Romaniello, Maria Savina Severino, Davide Politano, Fulvio D’Abrusco, Jessica Garau, Valentina De Giorgis, Adriana Carpani, Sabrina Signorini, Simona Orcesi, Felice D’Arco, Enrico Alfei, Elisa Cattaneo, Elisa Rognone, Sara Uccella, Maria Teresa Divizia, Paolo Infantino, Enza Maria Valente, Renato Borgatti, Anna Pichiecchio
Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study
American Journal of Neuroradiology Oct 2024, ajnr.A8450; DOI: 10.3174/ajnr.A8450
Accepted Manuscript
Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study
Ludovica Pasca, Filippo Arrigoni, Romina Romaniello, Maria Savina Severino, Davide Politano, Fulvio D’Abrusco, Jessica Garau, Valentina De Giorgis, Adriana Carpani, Sabrina Signorini, Simona Orcesi, Felice D’Arco, Enrico Alfei, Elisa Cattaneo, Elisa Rognone, Sara Uccella, Maria Teresa Divizia, Paolo Infantino, Enza Maria Valente, Renato Borgatti, Anna Pichiecchio
American Journal of Neuroradiology Oct 2024, ajnr.A8450; DOI: 10.3174/ajnr.A8450
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