(Q48647246)

13 February 2018

title

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

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13 February 2018

author

Jeremy Schwartzentruber

13

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author name string

D A Dyment

1

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13 February 2018

M Tétreault

2

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C L Beaulieu

3

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T Hartley

4

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P Ferreira

5

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J W Chardon

6

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J Marcadier

7

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S L Sawyer

8

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S J Mosca

9

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A M Innes

10

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J S Parboosingh

11

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D E Bulman

12

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J Majewski

14

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M Tarnopolsky

15

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K M Boycott

16

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FORGE Canada Consortium

17

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Care4Rare Canada

18

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publication date

28 August 2014

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13 February 2018

published in

Clinical Genetics

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volume

88

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issue

1

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13 February 2018

page(s)

34-40

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13 February 2018

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

cites work

1 reference

Molecular biology of epilepsy genes

21 January 2018

1 reference

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

21 January 2018

1 reference

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

Point mutations as a source of de novo genetic disease.

21 January 2018

1 reference

De novo mutations in epileptic encephalopathies

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

21 January 2018

1 reference

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

21 January 2018

1 reference

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

21 January 2018

1 reference

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

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

1 reference

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

21 January 2018

1 reference

PhenoTips: patient phenotyping software for clinical and research use.

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12464

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13 February 2018

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13 February 2018