A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: Phenotypic and genotypic expansion
Year: 2025
Type: article
Language: en
Topic: Genomics and Rare Diseases
Authors and affiliations:
raw_author_name: Ferruccio Romano
raw_affiliation_strings: Genomic and Clinical Genetics Unit, IRCSS Istituto G. Gaslini, Genoa, Italy
raw_author_name: Mohammad Sadegh Shams Nosrati
raw_affiliation_strings: Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, 16147, Italy
Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy
raw_author_name: Francesca Madia
raw_affiliation_strings: Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. Electronic address: francescamadia@gaslini.org
raw_author_name: Marzia Ognibene
raw_affiliation_strings: Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
raw_author_name: Monica Traverso
raw_affiliation_strings: Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
raw_author_name: Marta Breda
raw_affiliation_strings: Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, 16147, Italy
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy
raw_author_name: Alireza Dostmohammadi
raw_affiliation_strings: Department of Bioinformatics and Computational Biophysics, Faculty of Biology and Centre for Medical Biotechnology (ZMB), University of Duisburg-Essen, Essen, 45141, Germany
Department of Bioinformatics and Computational Biophysics, Faculty of Biology and Centre for Medical Biotechnology (ZMB), University of Duisburg-Essen, 45141, Essen, Germany
raw_author_name: Marcello Scala
raw_affiliation_strings: Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, 16147, Italy
Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy
raw_author_name: Federico Zara
raw_affiliation_strings: Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, 16147, Italy
Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy
raw_author_name: Maria Margherita Mancardi
raw_affiliation_strings: Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, 16147, Italy; Child Neuropsychiatry Unit, member ERN EpiCARE, IRCCS Istituto Giannina Gaslini, Genova, Italy
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy; Department of Bioinformatics and Computational Biophysics, Faculty of Biology and Centre for Medical Biotechnology (ZMB), University of Duisburg-Essen, 45141, Essen, Germany; Child Neuropsychiatry Unit, member ERN EpiCARE, IRCCS Istituto Giannina Gaslini, Genova, Italy
raw_author_name: Valeria Capra
raw_affiliation_strings: Genomic and Clinical Genetics Unit, IRCSS Istituto G. Gaslini, Genoa, Italy