Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
about
Advancing epilepsy genetics in the genomic eraPhenotype-driven strategies for exome prioritization of human Mendelian disease genes.Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathyConvulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.SCN8A mutation in a child presenting with seizures and developmental delaysSCN8A encephalopathy: Research progress and prospectsA novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.Genetic Testing in Epileptic Encephalopathy: Rosetta Stone or Just an Expensive Rock?Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies.Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.Human genotype-phenotype databases: aims, challenges and opportunities.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.Precision medicine in genetic epilepsies: break of dawn?The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizuresPotential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis.Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
P2860
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P2860
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
description
2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
@zh-hans
2014年学术文章
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2014年学术文章
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name
Whole-exome sequencing broaden ...... ilepsy: a retrospective study.
@en
Whole-exome sequencing broaden ...... ilepsy: a retrospective study.
@nl
type
label
Whole-exome sequencing broaden ...... ilepsy: a retrospective study.
@en
Whole-exome sequencing broaden ...... ilepsy: a retrospective study.
@nl
prefLabel
Whole-exome sequencing broaden ...... ilepsy: a retrospective study.
@en
Whole-exome sequencing broaden ...... ilepsy: a retrospective study.
@nl
P2093
P2860
P356
P1433
P1476
Whole-exome sequencing broaden ...... ilepsy: a retrospective study.
@en
P2093
C L Beaulieu
Care4Rare Canada
D A Dyment
D E Bulman
FORGE Canada Consortium
J Majewski
J Marcadier
J S Parboosingh
J W Chardon
P2860
P356
10.1111/CGE.12464
P577
2014-08-28T00:00:00Z