Cargando…

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...

Descripción completa

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:	Original Article
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

Ejemplares similares

Migrating Focal Seizures and Myoclonic Status in ARV1-Related Encephalopathy
por: Darra, Francesca, et al.
Publicado: (2021)

Morphometry and network-based atrophy patterns in SCN1A-related Dravet syndrome
por: Lenge, Matteo, et al.
Publicado: (2023)

Efficacy of Anti-Inflammatory Therapy in a Model of Acute Seizures and in a Population of Pediatric Drug Resistant Epileptics
por: Marchi, Nicola, et al.
Publicado: (2011)

Autism and Epilepsy in Patients With Tuberous Sclerosis Complex
por: Specchio, Nicola, et al.
Publicado: (2020)

Neurophysiological Findings in Neuronal Ceroid Lipofuscinoses
por: Trivisano, Marina, et al.
Publicado: (2022)

Impact of COVID-19 pandemic on pediatric patients with epilepsy – The caregiver perspective
por: Trivisano, Marina, et al.
Publicado: (2020)

A registry for Dravet syndrome: The Italian experience
por: Balestrini, Simona, et al.
Publicado: (2023)

POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings
por: Specchio, Nicola, et al.
Publicado: (2020)

The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature
por: Pepi, Chiara, et al.
Publicado: (2021)

Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice
por: Mazziotti, Raffaele, et al.
Publicado: (2017)

Imbalance of Systemic Redox Biomarkers in Children with Epilepsy: Role of Ferroptosis
por: Petrillo, Sara, et al.
Publicado: (2021)

Refractory Status Epilepticus in Genetic Epilepsy—Is Vagus Nerve Stimulation an Option?
por: Specchio, Nicola, et al.
Publicado: (2020)

An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a real‐world practice setting: A report from the Fenfluramine European Early Access Program
por: Guerrini, Renzo, et al.
Publicado: (2022)

International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder
por: Amin, Sam, et al.
Publicado: (2022)

Fatal Status Epilepticus in Dravet Syndrome
por: De Liso, Paola, et al.
Publicado: (2020)

Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on “De Liso et al. Fatal Status Epilepticus in Dravet Syndrome. Brain Sci. 2020, 10, 889”
por: De Liso, Paola, et al.
Publicado: (2021)

Insights into cognitive and behavioral comorbidities of SLC6A1-related epilepsy: five new cases and literature review
por: Trivisano, Marina, et al.
Publicado: (2023)

Complex CDKL5 translational regulation and its potential role in CDKL5 deficiency disorder
por: Ruggiero, Valeria, et al.
Publicado: (2023)

Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy
por: Specchio, Nicola, et al.
Publicado: (2020)

Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder
por: Fuchs, Claudia, et al.
Publicado: (2018)

A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability
por: Campostrini, Giulia, et al.
Publicado: (2018)

Case report: SLC6A1 mutations presenting with isolated absence seizures: description of 2 novel cases
por: Caputo, Davide, et al.
Publicado: (2023)

Cdkl5 mutant zebrafish shows skeletal and neuronal alterations mimicking human CDKL5 deficiency disorder
por: Varela, Tatiana, et al.
Publicado: (2022)

CDKL5 and Shootin1 Interact and Concur in Regulating Neuronal Polarization
por: Nawaz, Mohammad Sarfaraz, et al.
Publicado: (2016)

Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders
por: Yan, Yumei, et al.
Publicado: (2020)

Reigning in Excitatory Signaling in CDKL5 Deficiency
por: Forcelli, Patrick A.
Publicado: (2019)

Is Cenobamate the Breakthrough We Have Been Wishing for?
por: Specchio, Nicola, et al.
Publicado: (2021)

Mapping Pathological Phenotypes in a Mouse Model of CDKL5 Disorder
por: Amendola, Elena, et al.
Publicado: (2014)

Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder
por: Katayama, Syouichi, et al.
Publicado: (2020)

Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder
por: Di Nardo, Alessia, et al.
Publicado: (2022)

Expression of a Secretable, Cell-Penetrating CDKL5 Protein Enhances the Efficacy of Gene Therapy for CDKL5 Deficiency Disorder
por: Medici, Giorgio, et al.
Publicado: (2022)

Epileptic Encephalopathy
por: Specchio, Nicola, et al.
Publicado: (2012)

Efficacy and Safety of Long-Term Treatment with Stiripentol in Children and Adults with Drug-Resistant Epilepsies: A Retrospective Cohort Study of 196 Patients
por: Balestrini, Simona, et al.
Publicado: (2022)

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations
por: Vetro, Annalisa, et al.
Publicado: (2020)

Impact of the COVID‐19 lockdown on patients and families with Dravet syndrome
por: Brambilla, Isabella, et al.
Publicado: (2021)

Hemicerebellitis can drive handedness shift
por: Mascalchi, Mario, et al.
Publicado: (2017)

Hemispherotomy in Infants with Hemimegalencephaly: Long-Term Seizure and Developmental Outcome in Early Treated Patients
por: Pepi, Chiara, et al.
Publicado: (2022)

Can Presurgical Interhemispheric EEG Connectivity Predict Outcome in Hemispheric Surgery? A Brain Machine Learning Approach
por: Pepi, Chiara, et al.
Publicado: (2022)

There is variability in the attainment of developmental milestones in the CDKL5 disorder
por: Fehr, Stephanie, et al.
Publicado: (2015)

Characterisation of CDKL5 Transcript Isoforms in Human and Mouse
por: Hector, Ralph D., et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_sb6kh7fi99o4ses0c8rd07khig