Cargando…

Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes

Epilepsy is a neurological disorder characterized by an increased predisposition for seizures. Although this definition suggests that it is a single disorder, epilepsy encompasses a group of disorders with diverse aetiologies and outcomes. A genetic basis for epilepsy syndromes has been postulated f...

Descripción completa

Detalles Bibliográficos
Autores principales:	Dunn, Paul, Albury, Cassie L., Maksemous, Neven, Benton, Miles C., Sutherland, Heidi G., Smith, Robert A., Haupt, Larisa M., Griffiths, Lyn R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2018
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808353/ https://www.ncbi.nlm.nih.gov/pubmed/29467791 http://dx.doi.org/10.3389/fgene.2018.00020

Ejemplares similares

Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients
por: Maksemous, Neven, et al.
Publicado: (2016)

Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case
por: Bradshaw, Gabrielle, et al.
Publicado: (2018)

Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia
por: Maksemous, Neven, et al.
Publicado: (2020)

Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants
por: Sutherland, Heidi G., et al.
Publicado: (2020)

Exploring Neuronal Vulnerability to Head Trauma Using a Whole Exome Approach
por: Ibrahim, Omar, et al.
Publicado: (2020)

Next‐generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2
por: Maksemous, Neven, et al.
Publicado: (2016)

Investigating a Genetic Link Between Alzheimer’s Disease and CADASIL-Related Cerebral Small Vessel Disease
por: Dunn, Paul J., et al.
Publicado: (2022)

Exonic mutations in cell–cell adhesion may contribute to CADASIL-related CSVD pathology
por: Dunn, Paul J., et al.
Publicado: (2023)

Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity
por: Maksemous, Neven, et al.
Publicado: (2018)

Investigating diagnostic sequencing techniques for CADASIL diagnosis
por: Dunn, P. J., et al.
Publicado: (2020)

Advances in genetics of migraine
por: Sutherland, Heidi G., et al.
Publicado: (2019)

Epigenetic Regulation of miR-92a and TET2 and Their Association in Non-Hodgkin Lymphoma
por: Elliott, Esther K., et al.
Publicado: (2021)

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses
por: Bukowska-Olech, Ewelina, et al.
Publicado: (2020)

Methylome-wide association study of whole blood DNA in the Norfolk Island isolate identifies robust loci associated with age
por: Benton, Miles C., et al.
Publicado: (2017)

Exploring the Functional Basis of Epigenetic Aging in Relation to Body Fat Phenotypes in the Norfolk Island Cohort
por: Cao, Thao Van, et al.
Publicado: (2023)

Editorial: Next Generation Sequencing (NGS) for Rare Diseases Diagnosis
por: Yang, Xiu-An
Publicado: (2021)

Genome-wide allele-specific methylation is enriched at gene regulatory regions in a multi-generation pedigree from the Norfolk Island isolate
por: Benton, Miles C., et al.
Publicado: (2019)

Association of KCNJ6 rs2070995 and methadone response for pain management in advanced cancer at end-of-life
por: Ozberk, Deniz, et al.
Publicado: (2022)

Gene‐centric analysis implicates nuclear encoded mitochondrial protein gene variants in migraine susceptibility
por: Stuart, Shani, et al.
Publicado: (2017)

The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing
por: Wang, Dan-Dan, et al.
Publicado: (2019)

Editorial: Next generation sequencing (NGS) for rare diseases diagnosis ‐ Volume II
por: Yang, Xiu-An, et al.
Publicado: (2023)

Evaluating the suitability of current mitochondrial DNA interpretation guidelines for multigenerational whole mitochondrial genome comparisons
por: Connell, Jasmine R., et al.
Publicado: (2022)

Case Report: Diagnosis of Human Alveolar Echinococcosis via Next-Generation Sequencing Analysis
por: Li, Ke, et al.
Publicado: (2021)

Applications for next-generation sequencing in fish ecotoxicogenomics
por: Mehinto, Alvine C., et al.
Publicado: (2012)

The Use of Next-Generation Sequencing in Movement Disorders
por: Krebs, Catharine E., et al.
Publicado: (2012)

Statistics for Next Generation Sequencing – Meeting Report
por: Wu, Hao, et al.
Publicado: (2012)

Dysregulated MicroRNA Expression Profiles and Potential Cellular, Circulating and Polymorphic Biomarkers in Non-Hodgkin Lymphoma
por: Bradshaw, Gabrielle, et al.
Publicado: (2016)

Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family
por: Qi, Yu-He, et al.
Publicado: (2017)

Next-Generation Sequencing for Binary Protein–Protein Interactions
por: Suter, Bernhard, et al.
Publicado: (2015)

Investigation of CACNA1I Cav3.3 Dysfunction in Hemiplegic Migraine
por: Maksemous, Neven, et al.
Publicado: (2022)

Mammalian miRNA curation through next-generation sequencing
por: Brown, Miguel, et al.
Publicado: (2013)

From next-generation sequencing to systematic modeling of the gut microbiome
por: Ji, Boyang, et al.
Publicado: (2015)

Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance
por: Kanzi, Aquillah M., et al.
Publicado: (2020)

Integrating CRISPR-Cas and Next Generation Sequencing in Plant Virology
por: Mushtaq, Muntazir, et al.
Publicado: (2021)

Next-generation sequencing improves precision medicine in hearing loss
por: Imizcoz, T., et al.
Publicado: (2023)

Application of Next-Generation Sequencing for Genetic Diagnosis in Neonatal Intensive Care Units: Results of a Multicenter Study in China
por: Zhu, Tianwen, et al.
Publicado: (2020)

Now and Next-Generation Sequencing Techniques: Future of Sequence Analysis Using Cloud Computing
por: Thakur, Radhe Shyam, et al.
Publicado: (2012)

Review: Alternative Splicing (AS) of Genes As An Approach for Generating Protein Complexity
por: Roy, Bishakha, et al.
Publicado: (2013)

Integration of Next-Generation Sequencing Based Multi-Omics Approaches in Toxicogenomics
por: Jayapal, Manikandan
Publicado: (2012)

Two-phase and family-based designs for next-generation sequencing studies
por: Thomas, Duncan C., et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_uff2j6dkerla9jop4v7c3nfg91