Cargando…

Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing

Status epilepticus is not rare in critically ill intensive care unit patients, but its diagnosis is often delayed or missed. The mortality for convulsive status epilepticus is dependent on the underlying aetiologies and the age of the patients and thus varies from study to study. In this context, ef...

Descripción completa

Detalles Bibliográficos
Autores principales:	Thiffault, Isabelle, Atherton, Andrea, Heese, Bryce A., T. Abdelmoity, Ahmed, Pawar, Kailash, Farrow, Emily, Zellmer, Lee, Miller, Neil, Soden, Sarah, Saunders, Carol
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2020
Materias:	Research Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304362/ https://www.ncbi.nlm.nih.gov/pubmed/32358097 http://dx.doi.org/10.1101/mcs.a003970

Ejemplares similares

Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease
por: Thiffault, Isabelle, et al.
Publicado: (2017)

Clinical genome sequencing in an unbiased pediatric cohort
por: Thiffault, Isabelle, et al.
Publicado: (2018)

Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report
por: Cadieux-Dion, Maxime, et al.
Publicado: (2018)

Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures
por: Baple, Emma L., et al.
Publicado: (2014)

Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype
por: Job, Florian, et al.
Publicado: (2016)

Clinical detection of deletion structural variants in whole-genome sequences
por: Noll, Aaron C, et al.
Publicado: (2016)

Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes
por: Levitin, Maria O, et al.
Publicado: (2023)

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes
por: Thiffault, Isabelle, et al.
Publicado: (2015)

A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization
por: Thiffault, Isabelle, et al.
Publicado: (2015)

Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy
por: Horn, Svea, et al.
Publicado: (2023)

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
por: Petrikin, Josh E., et al.
Publicado: (2018)

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
por: Miller, Neil A., et al.
Publicado: (2015)

Next-generation community genetics for low- and middle-income countries
por: Kingsmore, Stephen F, et al.
Publicado: (2012)

De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies
por: Dinwiddie, Darrell L, et al.
Publicado: (2013)

Immunodeficiency-Associated Lymphoid Hyperplasia As a Cause of Intussusception in a Case of Activated PI3K-δ Syndrome
por: Mettman, Daniel, et al.
Publicado: (2017)

Retrospective analysis of NGS data in pediatric genetic cohort: detection of rare variants that may impact influenza and COVID-19 infection
por: Thiffault, Isabelle, et al.
Publicado: (2021)

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing
por: Hunter, Jesse M, et al.
Publicado: (2015)

Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy
por: Zhang, Linlin, et al.
Publicado: (2020)

Combined use of the ketogenic diet and vagus nerve stimulation in pediatric drug‐resistant epilepsy
por: Abdelmoity, Ayman T., et al.
Publicado: (2021)

Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma
por: Hannah-Shmouni, Fady, et al.
Publicado: (2019)

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing
por: Gallo, Vera, et al.
Publicado: (2016)

Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing
por: Chen, Xiao, et al.
Publicado: (2023)

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences
por: Twist, Greyson P, et al.
Publicado: (2016)

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences
por: Twist, Greyson P, et al.
Publicado: (2017)

Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature
por: Potic, Ana, et al.
Publicado: (2023)

The use of virtual tools in narrowing the impact of health disparities in neurology
por: Le Pichon, Jean-Baptiste, et al.
Publicado: (2022)

A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy
por: Macintosh, Julia, et al.
Publicado: (2023)

Whole Exome Sequencing Identifies a Novel Pathogenic RET Variant in Hirschsprung Disease
por: Wu, Wei, et al.
Publicado: (2019)

Whole-Exome Sequencing Identifies Pathogenic Germline Variants in Patients with Lynch-Like Syndrome
por: dos Santos, Wellington, et al.
Publicado: (2022)

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report
por: Macintosh, Julia, et al.
Publicado: (2023)

Which patients miss appointments with general practice and the reasons why: a systematic review
por: Parsons, Joanne, et al.
Publicado: (2021)

Polyspike ictal-onset absence seizures in a pediatric patient with Down syndrome
por: Abdelmoity, Sherouk, et al.
Publicado: (2020)

Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability
por: Asif, Maria, et al.
Publicado: (2022)

A novel likely pathogenic variant in a patient with Hermansky–Pudlak syndrome
por: Lansdon, Lisa A., et al.
Publicado: (2021)

Patient and public involvement mobile workshops – convenient involvement for the un-usual suspects
por: Eccles, Abi, et al.
Publicado: (2018)

Use of a pharmacy-based GP video consultation service: a mixed methods study
por: Parsons, Joanne, et al.
Publicado: (2022)

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer
por: Esteban-Jurado, Clara, et al.
Publicado: (2015)

Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenic KCNJ11 and HNF4A gene variants
por: Huerta-Saenz, Lina, et al.
Publicado: (2018)

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations
por: Sprissler, Ryan, et al.
Publicado: (2020)

Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR
por: Trang, Duong Thu, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_j1aieuekqmqrhmnhujh6ofi6f4