Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1. (Q27308868)

25 June 2017

Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1. (English)

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25 June 2017

episodic ataxia type 1

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10

Zbigniew K Wszolek

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25 June 2017

9

Owen A Ross

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25 June 2017

Pawel Tacik

1

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25 June 2017

Kimberly J Guthrie

2

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25 June 2017

Audrey J Strongosky

3

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25 June 2017

Daniel F Broderick

4

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25 June 2017

Douglas L Riegert-Johnson

5

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25 June 2017

Sha Tang

6

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25 June 2017

Dima El-Khechen

7

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25 June 2017

Alexander S Parker

8

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25 June 2017

language of work or name

English

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publication date

3 February 2015

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25 June 2017

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90

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3

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25 June 2017

366-371

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Exome sequencing identifies the cause of a mendelian disorder

25 June 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4354704

Targeted capture and massively parallel sequencing of 12 human exomes

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4354704

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4354704

A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4354704

Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4354704

Three novel KCNA1 mutations in episodic ataxia type I families

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4354704

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4354704

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4354704

Implementing individualized medicine into the medical practice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4354704

Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4354704

Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4354704

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4354704

Episodic ataxia type 1: a neuronal potassium channelopathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4354704

Episodic ataxia type 1 without episodic ataxia: the diagnostic utility of nerve excitability studies in individuals with KCNA1 mutations.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4354704

Characterization of the Kv1.1 I262T and S342I mutations associated with episodic ataxia 1 with distinct phenotypes

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4354704

Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4354704

Hereditary myokymia and periodic ataxia

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25659636

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.MAYOCP.2015.01.001

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25 June 2017

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