Cargando…

Adjuvant Treatment for Protocadherin 19 (PCDH19) Syndrome

Protocadherin 19 (PCDH19) syndrome is inherited as an X-linked pattern and affects mainly females. This syndrome is caused by a mutation in the PCDH19 gene encoding for the protocadherin protein. It is characterized by refractory seizures during febrile episodes with neuropsychiatric manifestations....

Descripción completa

Detalles Bibliográficos
Autores principales:	Moncayo, Juan A, Vargas, Maite N, Castillo, Isabel, Granda, Pablo V, Duque, Andrea M, Argudo, Jennifer M, Matcheswalla, Sakina, Lopez Dominguez, Guillermo E, Monteros, Gustavo, Andrade, Andres F, Ojeda, Diego, Yepez, Mario
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2022
Materias:	Internal Medicine
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9392850/ https://www.ncbi.nlm.nih.gov/pubmed/36004035 http://dx.doi.org/10.7759/cureus.27154

Ejemplares similares

Understanding Protein Protocadherin-19 (PCDH19) Syndrome: A Literature Review of the Pathophysiology
por: Moncayo, Juan A, et al.
Publicado: (2022)

Biallelic mutation of Protocadherin-21 (PCDH21) causes retinal degeneration in humans
por: Henderson, Robert H., et al.
Publicado: (2010)

Prognostic Value of Protocadherin10 (PCDH10) Methylation in Serum of Prostate Cancer Patients
por: Deng, Qiu-Kui, et al.
Publicado: (2016)

Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα)
por: Pham, Duyen H., et al.
Publicado: (2017)

Clinical significance of protocadherin 8 (PCDH8) promoter methylation in non-muscle invasive bladder cancer
por: Lin, Ying-Li, et al.
Publicado: (2014)

Protocadherin 8 (PCDH8) Inhibits Proliferation, Migration, Invasion, and Angiogenesis in Esophageal Squamous Cell Carcinoma
por: Yu, Hong, et al.
Publicado: (2020)

Aberrant Promoter Methylation of PCDH17 (Protocadherin 17) in Serum and its Clinical Significance in Renal Cell Carcinoma
por: Lin, Ying-Li, et al.
Publicado: (2017)

Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy
por: Shibata, Mami, et al.
Publicado: (2020)

The protocadherin 11X/Y (PCDH11X/Y) gene pair as determinant of cerebral asymmetry in modern Homo sapiens
por: Priddle, Thomas H, et al.
Publicado: (2013)

Low expression of protocadherin7 (PCDH7) is a potential prognostic biomarker for primary non-muscle invasive bladder cancer
por: Lin, Ying-Li, et al.
Publicado: (2016)

The Clustered Gamma Protocadherin Pcdhγc4 Isoform Regulates Cortical Interneuron Programmed Cell Death in the Mouse Cortex
por: Leon, Walter R Mancia, et al.
Publicado: (2023)

The protocadherins, PCDHB1 and PCDH7, are regulated by MeCP2 in neuronal cells and brain tissues: implication for pathogenesis of Rett syndrome
por: Miyake, Kunio, et al.
Publicado: (2011)

Aberrant Promoter Methylation of Protocadherin8 (PCDH8) in Serum is a Potential Prognostic Marker for Low Gleason Score Prostate Cancer
por: Lin, Ying-Li, et al.
Publicado: (2017)

Role of PCDH 1 Gene in the Development of Childhood Asthma and Other Related Phenotypes: A Literature Review
por: Biswas, Sharmi
Publicado: (2018)

Vemurafenib in the Treatment of Erdheim Chester Disease: A Systematic Review
por: Aziz, Syed N, et al.
Publicado: (2022)

Aberrant Protocadherin17 (PCDH17) Methylation in Serum is a Potential Predictor for Recurrence of Early-Stage Prostate Cancer Patients After Radical Prostatectomy
por: Lin, Ying-Li, et al.
Publicado: (2015)

Mosaicism and incomplete penetrance of PCDH19 mutations
por: Liu, Aijie, et al.
Publicado: (2019)

Arginine for the Treatment of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes: A Systematic Review
por: Argudo, Jennifer M, et al.
Publicado: (2022)

PCDH19 in Males: Are Hemizygous Variants Linked to Autism?
por: Chouery, Eliane, et al.
Publicado: (2023)

Protocadherin 19 Clustering Epilepsy and Neurosteroids: Opportunities for Intervention
por: de Nys, Rebekah, et al.
Publicado: (2021)

Modifying PCDH19 levels affects cortical interneuron migration
por: Pancho, Anna, et al.
Publicado: (2022)

The Role of Vitamin C as Adjuvant Therapy in COVID-19
por: Kumari, Poona, et al.
Publicado: (2020)

Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations
por: Dell’Isola, Giovanni Battista, et al.
Publicado: (2022)

Relevance of Fluorodopa PET Scan in Dopamine Responsive Dystonia and Juvenile Parkinsonism: A Systematic Review
por: Moncayo, Juan A., et al.
Publicado: (2022)

Autism-like behaviors in male mice with a Pcdh19 deletion
por: Lim, Jisoo, et al.
Publicado: (2019)

Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy
por: Yang, Li, et al.
Publicado: (2019)

Perturbation of Cortical Excitability in a Conditional Model of PCDH19 Disorder
por: Lamers, Didi, et al.
Publicado: (2022)

Protocadherins bring cells together
por: Leslie, Mitch
Publicado: (2011)

Protocadherins at the Crossroad of Signaling Pathways
por: Pancho, Anna, et al.
Publicado: (2020)

Structural determinants of adhesion by Protocadherin-19 and implications for its role in epilepsy
por: Cooper, Sharon R, et al.
Publicado: (2016)

The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation
por: Dell'Isola, Giovanni Battista, et al.
Publicado: (2022)

Sequencing and comparative analysis of fugu protocadherin clusters reveal diversity of protocadherin genes among teleosts
por: Yu, Wei-Ping, et al.
Publicado: (2007)

Mutations and Deletions in PCDH19 Account for Various Familial or Isolated Epilepsies in Females
por: Depienne, Christel, et al.
Publicado: (2011)

Male patients affected by mosaic PCDH19 mutations: five new cases
por: de Lange, I. M., et al.
Publicado: (2017)

Identification of PCDH19 Gene Mutations/Deletions in Patients with Early Onset Epilepsy
por: Gursoy, Semra, et al.
Publicado: (2020)

Behavioral and neuropsychological profile of a male patient with mosaic PCDH19 mutation
por: Johannessen, Margret, et al.
Publicado: (2022)

Brain calcifications and PCDH12 variants
por: Nicolas, Gaël, et al.
Publicado: (2017)

Use of Levodopa After a Stroke: A Systematic Review
por: Moncayo, Juan A, et al.
Publicado: (2022)

Mosaic and non-mosaic protocadherin 19 mutation leads to neuronal hyperexcitability in zebrafish
por: Robens, Barbara K., et al.
Publicado: (2022)

Clustered protocadherins methylation alterations in cancer
por: Vega-Benedetti, Ana Florencia, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_m3qf49cdmksgg21h372okgcqrd