Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study (Q48647246)

13 February 2018

title

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study (English)

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author

Jeremy Schwartzentruber

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author name string

D A Dyment

1

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M Tétreault

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C L Beaulieu

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T Hartley

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P Ferreira

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J W Chardon

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J Marcadier

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S L Sawyer

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S J Mosca

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A M Innes

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J S Parboosingh

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D E Bulman

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J Majewski

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M Tarnopolsky

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K M Boycott

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FORGE Canada Consortium

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Care4Rare Canada

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publication date

28 August 2014

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published in

Clinical Genetics

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volume

88

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issue

1

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page(s)

34-40

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Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy

cites work

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Molecular biology of epilepsy genes

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Genetic testing in the epilepsies--report of the ILAE Genetics Commission

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Diagnostic exome sequencing in persons with severe intellectual disability

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Point mutations as a source of de novo genetic disease

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De novo mutations in epileptic encephalopathies

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FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

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GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

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Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

21 January 2018

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Early onset epileptic encephalopathy caused by de novo SCN8A mutations

21 January 2018

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

21 January 2018

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Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

21 January 2018

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Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.

21 January 2018

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The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures

21 January 2018

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Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism

21 January 2018

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Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency

21 January 2018

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Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

21 January 2018

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Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

21 January 2018

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Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

21 January 2018

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Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy

21 January 2018

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The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource

21 January 2018

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Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review.

21 January 2018

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PhenoTips: Patient Phenotyping Software for Clinical and Research Use

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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/CGE.12464

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13 February 2018

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13 February 2018