(Q36882483)

16 August 2017

Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide (English)

1 reference

16 August 2017

1 reference

Lubbers WJ

1

1 reference

16 August 2017

Brunt ER

2

1 reference

16 August 2017

Scheffer H

3

1 reference

16 August 2017

Litt M

4

1 reference

16 August 2017

Stulp R

5

1 reference

16 August 2017

Browne DL

6

1 reference

16 August 2017

van Weerden TW

7

1 reference

16 August 2017

language of work or name

English

0 references

publication date

1 October 1995

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

16 August 2017

1 reference

16 August 2017

59

1 reference

16 August 2017

4

1 reference

16 August 2017

400-405

1 reference

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

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486077

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486077

A recessively inherited ataxia with episodes of dystonia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486077

Hereditary paroxysmal ataxia: Response to acetazolamide

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486077

29 September 2017

Ion channel shake-down.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486077

Paroxysmal choreoathetosis after head injury

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486077

Kinesigenic choreoathetosis due to brain injury

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486077

Paroxysmal choreoathetosis following head injury

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486077

Familial paroxysmal kinesigenic ataxia and continuous myokymia.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486077

Hereditary myokymia and periodic ataxia

4 September 2018

1 reference

12 December 2020

[Familial episodic ataxia (author's transl)]

1 reference

12 December 2020

Paroxysmal dystonic choreoathetosis in a patient with familial ataxia

1 reference

12 December 2020

Autosomal dominant episodic ataxia: a heterogeneous syndrome

1 reference

12 December 2020

[Lactate and pyruvate blood levels in the diagnosis of mitochondrial myopathies]

1 reference

12 December 2020

Contractures, continuous muscle discharges, and titubation

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.59.4.400

1 reference

16 August 2017

1 reference

16 August 2017

1 reference