Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation (Q37647769)

21 August 2017

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

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21 August 2017

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episodic ataxia type 1

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9

Robert W Baloh

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21 August 2017

8

Joanna C Jen

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21 August 2017

10

Michael G Hanna

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21 August 2017

Tracey D Graves

1

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21 August 2017

Yoon-Hee Cha

2

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21 August 2017

Angelika F Hahn

3

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21 August 2017

Richard Barohn

4

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21 August 2017

Mohammed K Salajegheh

5

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21 August 2017

Robert C Griggs

6

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21 August 2017

Brian N Bundy

7

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21 August 2017

CINCH Investigators

11

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21 August 2017

language of work or name

English

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publication date

26 February 2014

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21 August 2017

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21 August 2017

137

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21 August 2017

Pt 4

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21 August 2017

1009-1018

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Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

Equivalence of electronic and paper-and-pencil administration of patient-reported outcome measures: a meta-analytic review

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

Primary episodic ataxias: diagnosis, pathogenesis and treatment

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

Episodic ataxia type 1: a neuronal potassium channelopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

23 August 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

23 August 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

Three novel KCNA1 mutations in episodic ataxia type I families

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

Identification of two new KCNA1 mutations in episodic ataxia/myokymia families

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

Heteromultimeric K channels in terminal and juxtaparanodal regions of neurons

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

Localization of Kv1.1 and Kv1.2, two K channel proteins, to synaptic terminals, somata, and dendrites in the mouse brain

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

A gene for episodic ataxia/myokymia maps to chromosome 12p13.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

The MOS 36-ltem Short-Form Health Survey (SF-36)

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

Electronic diaries and questionnaires: designing user interfaces that are easy for all patients to use.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

Familial paroxysmal kinesigenic ataxia and continuous myokymia

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959554

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

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093/BRAIN/AWU012

Hereditary myokymia and periodic ataxia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24578548

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24578548

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWU012

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

24578548

1 reference