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CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome

The clinical phenotype of Cyclin-Dependent Kinase-Like 5 (CDKL5) deficiency disorder (CDD) has been delineated but neuroimaging features have not been systematically analyzed. We studied brain magnetic resonance imaging (MRI) scans in a cohort of CDD patients and reviewed age at seizure onset, seizu...

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Detalles Bibliográficos
Autores principales: Specchio, Nicola, Trivisano, Marina, Lenge, Matteo, Ferretti, Alessandro, Mei, Davide, Parrini, Elena, Napolitano, Antonio, Rossi-Espagnet, Camilla, Talenti, Giacomo, Longo, Daniela, Proietti, Jacopo, Ragona, Francesca, Freri, Elena, Solazzi, Roberta, Granata, Tiziana, Darra, Francesca, Bernardina, Bernardo Dalla, Vigevano, Federico, Guerrini, Renzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10472491/
https://www.ncbi.nlm.nih.gov/pubmed/37429835
http://dx.doi.org/10.1093/cercor/bhad235