Hypokalämische periodische Paralyse 1
Hypokalämische periodische Paralyse Typ 1 ist eine autosomal dominanre Erkrankung, die auf Mutationen im CACNA1S-Gen beruhen.
Gliederung
Referenzen:
| 1. |
Boerman RH et. al. (1995) Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis. [^] |
| 2. |
Ptácek LJ et. al. (1994) Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. [^] |
| 3. |
Fontaine B et. al. (1994) Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families. [^] |
| 4. |
Sokolov S et. al. (2007) Gating pore current in an inherited ion channelopathy. [^] |
| 5. |
Chabrier S et. al. (2008) Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene. [^] |
| 6. |
Matthews E et. al. (2009) Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. [^] |
| 7. |
Buruma OJ et. al. (1978) Erythrocyte membrane studies in familial hypokalemic periodic paralysis. [^] |
| 8. |
Ropers HH et. al. (1979) Periodic hypokalemic paralysis transmitted by an unaffected male with negative family history: a delayed mutation? [^] |
| 9. |
None (1977) Anesthetic experiences in a family with hypokalemic familial periodic paralysis. [^] |
| 10. |
Corbett VA et. al. (1975) Familial hypokalemic periodic paralysis in blacks. [^] |
| 11. |
Casley WL et. al. (1992) Exclusion of linkage between hypokalemic periodic paralysis (HOKPP) and three candidate loci. [^] |
| 12. |
Kantola IM et. al. (1992) Diagnosis of familial hypokalemic periodic paralysis: role of the potassium exercise test. [^] |
| 13. |
Fontaine B et. al. (1991) Different gene loci for hyperkalemic and hypokalemic periodic paralysis. [^] |
| 14. |
Pun KK et. al. (1989) Hypokalemic periodic paralysis due to the Sjögren syndrome in Chinese patients. [^] |
| 15. |
Ma JT et. al. (1986) Fifty cases of primary hyperaldosteronism in Hong Kong Chinese with a high frequency of periodic paralysis. Evaluation of techniques for tumour localisation. [^] |
| 16. |
Buruma OJ et. al. (1985) Familial hypokalemic periodic paralysis. 50-year follow-up of a large family. [^] |
| 17. |
Campa JF et. al. (1974) Familial hypokalemic periodic paralysis. [^] |
| 18. |
None (1981) Familial periodic paralysis with hypokalaemia. Experimental and clinical investigations. [^] |
| 19. |
Raskin RJ et. al. (1981) Hypokalemic periodic paralysis in Sjögren's syndrome. [^] |
| 20. |
Plassart E et. al. (1994) Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP). [^] |
| 21. |
Jurkat-Rott K et. al. (2000) Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. [^] |
| 22. |
Abbott GW et. al. (2001) MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. [^] |
| 23. |
Sternberg D et. al. (2001) Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. [^] |
| 24. |
Davies NP et. al. (2001) Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK. [^] |
| 25. |
CUSINS PJ et. al. (1963) FAMILIAL PERIODIC PARALYSIS. SEVEN CASES IN A DURBAN FAMILY. [^] |
| 26. |
Sternberg D et. al. (2003) Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis. [^] |
| 27. |
Jurkat-Rott K et. al. (2004) Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation. [^] |
| 28. |
Miller TM et. al. (2004) Correlating phenotype and genotype in the periodic paralyses. [^] |
| 29. |
None (2006) Clinical review: Thyrotoxic periodic paralysis: a diagnostic challenge. [^] |
