Cargando…

Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsy

OBJECTIVE: Early onset drug‐resistant epilepsy is a neurologic disorder in which 2 antiepileptic drugs fail to maintain the seizure‐free status of the patient. Heterogeneous clinical presentations make the diagnosis challenging. We aim to identify the underlying genetic causes of a pediatric cohort...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tsang, Mandy Ho‐Yin, Leung, Gordon Ka‐Chun, Ho, Alvin Chi‐Chung, Yeung, Kit‐San, Mak, Christopher Chun‐Yu, Pei, Steven Lim‐Cho, Yu, Mullin Ho‐Chung, Kan, Anita Sik‐Yau, Chan, Kelvin Yuen‐Kwong, Kwong, Karen Ling, Lee, So‐Lun, Yung, Ada Wing‐Yan, Fung, Cheuk‐Wing, Chung, Brian Hon‐Yin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2018
Materias:	Full‐length Original Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398105/ https://www.ncbi.nlm.nih.gov/pubmed/30868116 http://dx.doi.org/10.1002/epi4.12282

Ejemplares similares

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese
por: Chau, Jeffrey Fong Ting, et al.
Publicado: (2022)

Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population
por: Yu, Mullin Ho Chung, et al.
Publicado: (2021)

Exome sequencing in paediatric patients with movement disorders
por: Kwong, Anna Ka-Yee, et al.
Publicado: (2021)

Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis
por: Yu, Mullin Ho Chung, et al.
Publicado: (2021)

Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy
por: Kwong, Anna Ka-Yee, et al.
Publicado: (2015)

Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy
por: Fung, Cheuk‐Wing, et al.
Publicado: (2017)

Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies—Experience from a Local Prenatal Diagnostic Laboratory
por: Lai, Theodora Hei Tung, et al.
Publicado: (2022)

Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey
por: Mak, Christopher CY, et al.
Publicado: (2018)

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
por: Yu, Mullin Ho-Chung, et al.
Publicado: (2019)

Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients
por: Tsang, Mandy H. Y., et al.
Publicado: (2020)

Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder—implications of a copy number variation involving DPP10
por: Mak, Annisa Shui Lam, et al.
Publicado: (2017)

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population
por: Tsang, Mandy H.Y., et al.
Publicado: (2020)

SMARCB1 (INI-1)-Deficient Sinonasal Carcinoma: A Systematic Review and Pooled Analysis of Treatment Outcomes
por: Lee, Victor Ho-Fun, et al.
Publicado: (2022)

Successful transition from insulin to sulphonylurea in a child with neonatal diabetes mellitus diagnosed beyond six months of age due to C42R mutation in the KCNJ11 gene
por: Poon, Sarah Wing-yiu, et al.
Publicado: (2022)

Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis
por: Chau, Jeffrey Fong Ting, et al.
Publicado: (2022)

Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction
por: Ma, Alvin Chun Hang, et al.
Publicado: (2020)

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis
por: Fung, Jasmine L. F., et al.
Publicado: (2020)

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism
por: Yeung, Kit San, et al.
Publicado: (2017)

High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes
por: Kwong, Anna Ka‐Yee, et al.
Publicado: (2021)

A fatal case of COQ7‐associated primary coenzyme Q(10) deficiency
por: Kwong, Anna K.‐Y., et al.
Publicado: (2019)

Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome
por: Kwong, Anna Ka-Yee, et al.
Publicado: (2012)

Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs
por: Chung, Claudia C.Y., et al.
Publicado: (2020)

A survey of the health and safety conditions of apartment buildings in Hong Kong
por: Ho, Daniel Chi-Wing, et al.
Publicado: (2008)

Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong
por: Chung, Claudia Ching Yan, et al.
Publicado: (2020)

Headache in a Child with Pseudohypoparathyroidism: An Alarming Symptom Not to Miss
por: Poon, Sarah Wing-yiu, et al.
Publicado: (2020)

Cigarette Smoking Accelerated Brain Aging and Induced Pre-Alzheimer-Like Neuropathology in Rats
por: Ho, Yuen-Shan, et al.
Publicado: (2012)

Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism
por: Tung, Joanna Yuet-ling, et al.
Publicado: (2020)

The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes
por: Yeung, Kit San, et al.
Publicado: (2020)

Exogenous Expression of Human apoA-I Enhances Cardiac Differentiation of Pluripotent Stem Cells
por: Ng, Kwong-Man, et al.
Publicado: (2011)

Propensity-matched Comparison Between Chronic Nonspecific Low Back Pain and Axial Spondyloarthritis: Impact on patient-perceived Quality of Life
por: Cheung, Jason Pui Yin, et al.
Publicado: (2023)

Anterior perineal hernia after anterior exenteration
por: Wong, Ka Wing, et al.
Publicado: (2017)

A Flexible Network of Lipid Droplet Associated Proteins Support Embryonic Integrity of C. elegans
por: Cao, Zhe, et al.
Publicado: (2022)

Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong
por: Belaramani, Kiran Moti, et al.
Publicado: (2023)

Longitudinal Changes of NF-κB Downstream Mediators and Peritoneal Transport Characteristics in Incident Peritoneal Dialysis Patients
por: Fung, Winston Wing-Shing, et al.
Publicado: (2020)

An artificial intelligence-enabled smartphone app for real-time pressure injury assessment
por: Lau, Chun Hon, et al.
Publicado: (2022)

Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug
por: Ling, Janet, et al.
Publicado: (2022)

A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report
por: Ng, Vivian Kwun Sin, et al.
Publicado: (2021)

Pilot study on evaluation of any correlation between MR perfusion (K(trans)) and diffusion (apparent diffusion coefficient) parameters in brain tumors at 3 Tesla
por: Chu, Jian-Ping, et al.
Publicado: (2012)

A New Tetradentate Mixed Aza-Thioether Macrocycle and Its Complexation Behavior towards Fe(II), Ni(II) and Cu(II) Ions
por: Ng, Sze-Wing, et al.
Publicado: (2020)

Psychometric validation of the EuroQoL 5-dimension (EQ-5D) questionnaire in patients with spondyloarthritis
por: Tsang, Helen Hoi Lun, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_8ml8ilkbt9vbmglr76hjgtmka8