(Q82703373)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16511644%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16511644%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

A Poujois

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16511644%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

J-Ch Antoine

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16511644%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

A Combes

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16511644%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

R L Touraine

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16511644%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

publication date

6 March 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16511644%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16511644%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

253

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16511644%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16511644%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

page(s)

957-959

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16511644%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00415-006-0134-y

17 January 2020

exact match

0 references

cites work

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

1 reference

12 December 2020

Determinants of 4-aminopyridine sensitivity in a human brain kv1.4 k(+) channel: phenylalanine substitutions in leucine heptad repeat region stabilize channel closed state

1 reference

12 December 2020

Potassium channelopathies

1 reference

12 December 2020

Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency

1 reference

12 December 2020

A novel mutation in KCNA1 causes episodic ataxia without myokymia

1 reference

12 December 2020

Hereditary myokymia and periodic ataxia

1 reference

12 December 2020

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

1 reference

12 December 2020

A role for hydrophobic residues in the voltage-dependent gating of Shaker K+ channels

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Three novel KCNA1 mutations in episodic ataxia type I families

1 reference

12 December 2020