Cargando…

Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations

Objective: Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder caused by upregulated signaling through the RAS-mitogen-activated protein kinase (MAPK) pathway, mostly resulting from de novo activating BRAF mutations. Children with CFCS are prone to epilepsy, which is a major life-t...

Descripción completa

Detalles Bibliográficos
Autores principales:	Battaglia, Domenica I., Gambardella, Maria Luigia, Veltri, Stefania, Contaldo, Ilaria, Chillemi, Giovanni, Veredice, Chiara, Quintiliani, Michela, Leoni, Chiara, Onesimo, Roberta, Verdolotti, Tommaso, Radio, Francesca Clementina, Martinelli, Diego, Trivisano, Marina, Specchio, Nicola, Dravet, Charlotte, Tartaglia, Marco, Zampino, Giuseppe
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8470450/ https://www.ncbi.nlm.nih.gov/pubmed/34573299 http://dx.doi.org/10.3390/genes12091316

Ejemplares similares

Cortical Visual Impairment in CDKL5 Deficiency Disorder
por: Quintiliani, Michela, et al.
Publicado: (2022)

Fighting autoinflammation in FIRES: The role of interleukins and early immunomodulation
por: Perulli, Marco, et al.
Publicado: (2022)

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype
por: Kenney‐Jung, Daniel L., et al.
Publicado: (2022)

Visual Function in Children with GNAO1-Related Encephalopathy
por: Gambardella, Maria Luigia, et al.
Publicado: (2023)

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report
por: Sprovieri, Teresa, et al.
Publicado: (2019)

Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status
por: Leoni, Chiara, et al.
Publicado: (2021)

Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation
por: Onesimo, Roberta, et al.
Publicado: (2021)

Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome
por: Romeo, Domenico M., et al.
Publicado: (2020)

Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review
por: Cipolla, Clelia, et al.
Publicado: (2023)

Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review
por: Pugnaloni, Flaminia, et al.
Publicado: (2023)

Multidisciplinary Management of Costello Syndrome: Current Perspectives
por: Leoni, Chiara, et al.
Publicado: (2022)

Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8
por: Pasquetti, Domizia, et al.
Publicado: (2023)

Chiari 1 Malformation and Epilepsy in Children: A Missing Relationship
por: Massimi, Luca, et al.
Publicado: (2022)

Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature
por: Onesimo, Roberta, et al.
Publicado: (2023)

Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes
por: Flex, Elisabetta, 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)

Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids
por: Borghi, Rossella, et al.
Publicado: (2022)

Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype
por: Priolo, Manuela, et al.
Publicado: (2021)

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

Two case reports of fetal alcohol syndrome: broadening into the spectrum of cardiac disease to personalize and to improve clinical assessment
por: Onesimo, R., et al.
Publicado: (2019)

Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports
por: Onesimo, Roberta, et al.
Publicado: (2023)

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy
por: Kolc, Kristy L., et al.
Publicado: (2020)

A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset
por: De Rose, Domenico Umberto, et al.
Publicado: (2021)

NAMPT Over-Expression Recapitulates the BRAF Inhibitor Resistant Phenotype Plasticity in Melanoma
por: Audrito, Valentina, et al.
Publicado: (2020)

Basedow-Graves’ disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment
por: Onesimo, Roberta, et al.
Publicado: (2020)

Multimodal ocular imaging in Proteus syndrome
por: Salerni, Annabella, et al.
Publicado: (2022)

Intestinal Permeability in Children with Functional Gastrointestinal Disorders: The Effects of Diet
por: Giorgio, Valentina, et al.
Publicado: (2022)

Thoracolumbar stenosis and neurologic symptoms: Quantitative MRI in achondroplasia
por: Calandrelli, Rosalinda, et al.
Publicado: (2022)

Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment
por: Nurchis, Mario Cesare, et al.
Publicado: (2023)

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

Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series
por: Wibbeler, Eva, et al.
Publicado: (2020)

Disruption of mutated BRAF signaling modulates thyroid cancer phenotype
por: Hanly, Elyse K, et al.
Publicado: (2014)

The “FEEDS (FEeding Eating Deglutition Skills)” over Time Study in Cardiofaciocutaneous Syndrome
por: Onesimo, Roberta, et al.
Publicado: (2023)

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

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

Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome
por: Onesimo, R., et al.
Publicado: (2023)

Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype
por: Niceta, Marcello, et al.
Publicado: (2022)

Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures
por: Cesaroni, Carlo Alberto, et al.
Publicado: (2023)

Acquired resistance to BRAFi reverses senescence-like phenotype in mutant BRAF melanoma
por: Krayem, Mohammad, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_hsiq6utqd2svr0vgad6s7huh1k