|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.
|
10366610 |
1999 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
A novel sodium channel mutation in a family with hypokalemic periodic paralysis.
|
10599760 |
1999 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia.
|
10218481 |
1999 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans.
|
10381583 |
1999 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation.
|
11102465 |
2000 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.
|
10944223 |
2000 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.
|
11558801 |
2001 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
Hyperkalemic periodic paralysis and paramyotonia congenita--a novel sodium channel mutation.
|
11757950 |
2001 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
Mexiletine block of disease-associated mutations in S6 segments of the human skeletal muscle Na(+) channel.
|
11744749 |
2001 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.
|
11591859 |
2001 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II.
|
11912116 |
2002 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5.
|
11971097 |
2002 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.
|
14504341 |
2003 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V.
|
12562902 |
2003 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
Thr1313Met mutation in skeletal muscle sodium channels in a Japanese family with paramyotonia congenita.
|
14518676 |
2003 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation.
|
15482957 |
2004 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
Thyrotoxic periodic paralysis associated with a mutation in the sodium channel gene SCN4A.
|
15645704 |
2004 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
|
15596759 |
2004 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide.
|
15557532 |
2004 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.
|
15790667 |
2005 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
K-aggravated myotonia mutations at residue G1306 differentially alter deactivation gating of human skeletal muscle sodium channels.
|
16392038 |
2005 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.
|
15642860 |
2005 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
Paralysis periodica paramyotonica caused by SCN4A Arg1448Cys mutation.
|
16801039 |
2006 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis.
|
16890191 |
2006 |
|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
Hyperkalemic periodic paralysis
|
1.000 |
CausalMutation |
CLINVAR |
Autosomal dominant monosymptomatic myotonia permanens.
|
16832098 |
2006 |