Cargando…

Epilepsy surgery in PCDH 19 related developmental and epileptic encephalopathy: A case report

We report a female child with PCDH19 related developmental and epileptic encephalopathy with drug-resistant seizures, cognitive and language impairment, autism spectrum disorder and sleep dysfunction. Her seizures, which started at 10 months of age, were resistant to multiple anti-seizure medication...

Descripción completa

Detalles Bibliográficos
Autores principales:	Nagarajan, Lakshmi, Ghosh, Soumya, Dyke, Jason, Lee, Sharon, Silberstein, Jonathan, Azmanov, Dimitar, Richard, Warne
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9287778/ https://www.ncbi.nlm.nih.gov/pubmed/35856042 http://dx.doi.org/10.1016/j.ebr.2022.100560

Ejemplares similares

The Role of Epilepsy Surgery in the Treatment of Childhood Epileptic Encephalopathy
por: Kayyali, Husam R., et al.
Publicado: (2013)

Inherited Developmental and Epileptic Encephalopathies
por: Bartolini, Emanuele
Publicado: (2021)

Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review
por: Spagnoli, Carlotta, et al.
Publicado: (2021)

Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism
por: Spagnoli, Carlotta, et al.
Publicado: (2023)

The epilepsy phenotype of ST3GAL3‐related developmental and epileptic encephalopathy
por: Whitney, Robyn, et al.
Publicado: (2023)

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
por: Depienne, Christel, et al.
Publicado: (2009)

Tubulinopathy Presenting as Developmental and Epileptic Encephalopathy
por: Hung, Kun-Long, et al.
Publicado: (2022)

Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies
por: Beltrán-Corbellini, Álvaro, et al.
Publicado: (2022)

Genetic Testing in Children with Developmental and Epileptic Encephalopathies: A Review of Advances in Epilepsy Genomics
por: Chang, Yu-Tzu, et al.
Publicado: (2023)

Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
por: Depienne, Christel, et al.
Publicado: (2009)

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

Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review
por: Spagnoli, Carlotta, et al.
Publicado: (2021)

Dravet Syndrome: A Developmental and Epileptic Encephalopathy
por: Lopez-Santiago, Luis, et al.
Publicado: (2019)

STXBP1-Related Developmental and Epileptic Encephalopathy
por: Wild, Brittani, et al.
Publicado: (2019)

KCNQ2‐DEE: developmental or epileptic encephalopathy?
por: Berg, Anne T., et al.
Publicado: (2021)

RARS1‐related developmental and epileptic encephalopathy
por: Wan, Lin, et al.
Publicado: (2023)

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy
por: Vlaskamp, Danique R.M., et al.
Publicado: (2019)

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania
por: Ware, Tyson L., et al.
Publicado: (2019)

Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy
por: Bott, Laura C, et al.
Publicado: (2021)

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
por: Krenn, Martin, et al.
Publicado: (2019)

Investigating Developmental and Epileptic Encephalopathy Using Drosophila melanogaster
por: Takai, Akari, et al.
Publicado: (2020)

A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies
por: Happ, Hannah C., et al.
Publicado: (2020)

Solute carrier transporter disease and developmental and epileptic encephalopathy
por: Gan, Yajing, et al.
Publicado: (2022)

Advances toward precision therapeutics for developmental and epileptic encephalopathies
por: Bertocchi, Ilaria, et al.
Publicado: (2023)

Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report
por: Tan, Yuxia, et al.
Publicado: (2018)

PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum
por: Johannesen, Katrine M., et al.
Publicado: (2021)

PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy
por: Shiraku, Hiroshi, et al.
Publicado: (2018)

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy
por: Johannesen, Katrine M., et al.
Publicado: (2019)

Overlaps, gaps, and complexities of mouse models of Developmental and Epileptic Encephalopathy
por: Wang, Wanqi, et al.
Publicado: (2020)

Solving the Molecular Basis of the Developmental and Epileptic Encephalopathies: Are We there Yet?
por: Scheffer, Ingrid E.
Publicado: (2021)

Developmental and Epileptic Encephalopathy 76: Case Report and Review of Literature
por: Han, Xiaodi, et al.
Publicado: (2022)

Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy
por: Aronica, Eleonora, et al.
Publicado: (2023)

Dataset on the psychosocial impact in families with children with developmental and epileptic encephalopathies
por: Salom, Rafael, et al.
Publicado: (2023)

Tolerability and Effectiveness of Cathodal Transcranial Direct Current Stimulation in Children with Refractory Epilepsy: A Case Series
por: Ghosh, Soumya, et al.
Publicado: (2023)

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

Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy
por: Bozarth, Xiuhua L., et al.
Publicado: (2023)

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
por: Stamberger, Hannah, et al.
Publicado: (2022)

Source EEG reveals that Rolandic epilepsy is a regional epileptic encephalopathy
por: Spencer, Elizabeth R., et al.
Publicado: (2022)

The Efficacy of Ketogenic Diet for Specific Genetic Mutation in Developmental and Epileptic Encephalopathy
por: Ko, Ara, et al.
Publicado: (2018)

Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies
por: Sun, Xiaomin, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_hhmvqse856t03q3ijtgpenc78h