192:, with attacks often beginning in childhood. Depending on the type and severity of the HyperKPP, it can increase or stabilize until the fourth or fifth decade where attacks may cease, decline, or, depending on the type, continue on into old age. Factors that can trigger attacks include rest after exercise, potassium-rich foods, stress, fatigue, weather changes, certain pollutants (e.g., cigarette smoke) and fasting. Muscle strength often improves between attacks, although many affected people may have increasing bouts of muscle weakness as the disorder progresses (abortive attacks). Sometimes with HyperKPP those affected may experience degrees of muscle stiffness and spasms (
270:
in a sodium leak and failure to return to the original resting membrane potential. In the presence of hyperkalemia, which causes an additional chronic depolarization of the membrane potential, this sodium leak raises the membrane potential to the point that all sodium channels, including channels produced from the wild-type allele and mutant channels that did inactivate, fail to be release from inactivation (enter depolarization block). Since the motor end plate is depolarised, further signals to contract have no effect (paralysis).
136:
284:
269:
The pathological mechanism of SCN4A mutations in hyperkalemic periodic paralysis is complex, but explains the autosomal dominant and hyperkalemia-related aspects of the disease. In patients with mutations in SCN4A, not all copies of the channel inactivate following the action potential. This results
257:
to cause contraction (tensing) of the muscle. To prevent the muscle from being perpetually contracted, the channel contains a fast inactivation gate that plugs the sodium pore very quickly after it opens. This prevents further entry of sodium. In time, potassium ions will leave the muscle cells,
261:
Mutations altering the usual structure and function of this sodium channel therefore disrupt regulation of muscle contraction, leading to episodes of severe muscle weakness or paralysis. Mutations have been identified in residues between transmembrane domains III and IV which make up the fast
203:) during attacks. In other cases, attacks are associated with normal blood potassium levels (normokalemia). Ingesting potassium can trigger attacks in affected individuals, even if blood potassium levels do not rise in response.
857:
842:
540:
Rojas CV, Wang JZ, Schwartz LS, Hoffman EP, Powell BR, Brown RH (December 1991). "A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis".
1001:
1474:
210:(noted in humans) refers to loss-of-function mutations in channels that prevent muscle depolarisation and therefore are aggravated by low potassium ion concentrations.
266:
1.4. Mutations have been found on the cytoplasmic loops between the S4 and S5 helices of domains II, III and IV, which are the binding sites of the inactivation gate.
994:
2598:
1788:
483:
Update Date: 7/25/2006. Updated by: David M. Charytan, M.D., M.Sc., Department of
Medicine, Division of Nephrology, Brigham and Women's Hospital, Boston, MA.
697:
RĂĽdel R, Lehmann-Horn F, Ricker K, KĂĽther G (February 1984). "Hypokalemic periodic paralysis: in vitro investigation of muscle fiber membrane parameters".
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119:
changes in parts of the channel which are important for inactivation. These mutations impair "ball and chain" fast inactivation of SCN4A following an
153:
1860:
1836:
238:. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause it.
2483:
1711:
348:
320:
1469:
789:
Lee, GM; Kim, JB (June 2011). "Hyperkalemic periodic paralysis and paramyotonia congenita caused by a de novo mutation in the SCN4A gene".
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196:) in the affected muscles. This can be caused by the same things that trigger the paralysis, dependent on the type of myotonia.
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repolarising the cells and causing the pumping of calcium away from the contractile apparatus to relax the muscle.
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Some people with hyperkalemic periodic paralysis have increased levels of potassium in their blood (
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2010:
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1.4 and depolarise the muscle cells. This depolarisation triggers the entry of calcium from the
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1984:
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945:
593:"Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5"
8:
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92:. It is characterized by muscle hyperexcitability or weakness which, exacerbated by
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In humans, the most common underlying genetic cause is one of several possible
77:
956:
899:
851:
819:
742:"Muscle channelopathies and critical points in functional and genetic studies"
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1626:
1331:
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19:
This article is about the disease in humans. For the disease in equines, see
100:. Onset usually occurs in early childhood, but it still occurs with adults.
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160: in this section. Unsourced material may be challenged and removed.
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Voltage-gated Sodium
Channels: Structure, Function and Channelopathies
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decreases activity of sodium channels. It may stop sudden attacks.
16:
Episodes of muscular weakness due to excess potassium in the blood
820:
GeneReview/NIH/UW entry on
Hyperkalemic Periodic Paralysis Type 1
591:
Bendahhou S, Cummins TR, Kula RW, Fu YH, Ptácek LJ (April 2002).
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and may reduce weakness without a loss of total body potassium.
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81:
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96:, heat or cold, can lead to uncontrolled shaking followed by
89:
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Hyperkalemic periodic paralysis causes episodes of extreme
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can be given during an attack and may reduce the severity.
246:
539:
241:
Action potentials from the central nervous system cause
739:
493:
Sekhon, Dilraj S.; Vaqar, Sarosh; Gupta, Vikas (2022),
590:
111:
gene with linkage to the sodium channel expressed in
824:
107:causing this disorder is autosomal dominant on the
428:stimulates potassium uptake into the cell by the
2590:
492:
501:, Treasure Island (FL): StatPearls Publishing,
650:. Springer International Publishing: 309–330.
2599:Myoneural junction and neuromuscular diseases
1611:
995:
740:Jurkat-Rott K, Lehmann-Horn F (August 2005).
529:Hyperkalemic Periodic Paralysis; HYPP - 17050
476:
474:
472:
470:
468:
466:
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1625:
481:MedlinePlus: Hyperkalemic periodic paralysis
435:A high-carbohydrate diet may be recommended.
640:"Sodium Channelopathies of Skeletal Muscle"
1618:
1604:
1002:
988:
788:
461:
2523:Progressive symmetric erythrokeratodermia
765:
673:
646:. Handbook of Experimental Pharmacology.
438:Avoidance of other known attack triggers.
368:Learn how and when to remove this message
176:Learn how and when to remove this message
2537:Clouston's hidrotic ectodermal dysplasia
449:Hyperkalemic periodic paralysis (equine)
21:Hyperkalemic periodic paralysis (equine)
2591:
2484:Keratitis–ichthyosis–deafness syndrome
2303:Congenital absence of the vas deferens
957:Hyperkalemic Periodic Paralysis Type 1
637:
405:may be needed to stop sudden attacks;
304:Please improve this section by adding
1599:
983:
125:
277:
158:adding citations to reliable sources
129:
525:Online Mendelian Inheritance in Man
13:
2154:Jervell and Lange-Nielsen syndrome
2093:Jervell and Lange-Nielsen syndrome
1263:BIN1-linked centronuclear myopathy
84:cells and the ability to regulate
14:
2620:
1544:Testosterone deficiency myopathy
1052:Lambert–Eaton myasthenic syndrome
813:
495:"Hyperkalemic Periodic Paralysis"
317:"Hyperkalemic periodic paralysis"
2564:Nephrogenic diabetes insipidus 2
1952:Congenital insensitivity to pain
1947:Paroxysmal extreme pain disorder
1875:Hypokalemic periodic paralysis 2
1726:Hypokalemic periodic paralysis 1
1500:Kocher–Debre–Semelaigne syndrome
1149:Limb-girdle muscular dystrophy 2
1106:Limb-girdle muscular dystrophy 1
282:
134:
2456:Hypoplastic left heart syndrome
2267:Thyrotoxic periodic paralysis 2
1880:Hyperkalemic periodic paralysis
1731:Thyrotoxic periodic paralysis 1
808:Hyperkalemic periodic paralysis
245:at the NMJ which causes sodium
145:needs additional citations for
59:Hyperkalemic periodic paralysis
32:Hyperkalemic periodic paralysis
2518:Erythrokeratodermia variabilis
2470:Charcot–Marie–Tooth disease X1
2174:Familial atrial fibrillation 3
2079:Spinocerebellar ataxia type-13
2065:Familial atrial fibrillation 7
1832:Familial hemiplegic migraine 3
1659:Familial hemiplegic migraine 1
1441:Fatty-acid metabolism disorder
1064:Congenital myasthenic syndrome
806:National Library of Medicine.
782:
733:
690:
631:
584:
533:
518:
486:
208:hypokalemic periodic paralysis
115:. The mutation causes single
1:
2364:Vitelliform macular dystrophy
1890:Potassium-aggravated myotonia
1669:Spinocerebellar ataxia type-6
1553:Hypogonadotropic hypogonadism
454:
306:secondary or tertiary sources
273:
228:voltage-gated sodium channel
7:
2451:Hallermann–Streiff syndrome
2446:Oculodentodigital dysplasia
2011:Pseudohypoaldosteronism 1AR
638:Cannon, Stephen C. (2018).
442:
213:
10:
2625:
18:
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2281:
2198:
2034:
2025:
1962:
1817:
1808:
1755:
1642:
1633:
1568:
1530:Hyperparathyroid myopathy
1484:
1425:
1401:
1381:
1351:
1306:
1292:
1220:
1179:
1134:
1096:
1081:
1072:
1026:
920:
828:
206:In contrast to HyperKPP,
44:
40:Gamstorp episodic adynamy
36:
31:
1627:Diseases of ion channels
1525:Hypoparathyroid myopathy
1436:Glycogen storage disease
226:. This gene codes for a
2229:Andersen–Tawil syndrome
1548:Late-onset hypogonadism
1539:Corticosteroid myopathy
1257:adaptor protein disease
262:inactivation gate of Na
2494:Bart–Pumphrey syndrome
1885:Paramyotonia congenita
1770:Malignant hyperthermia
1451:Mitochondrial myopathy
1344:Paramyotonia congenita
1016:neuromuscular junction
293:relies excessively on
255:sarcoplasmic reticulum
236:neuromuscular junction
76:disorder that affects
2419:Mucolipidosis type IV
1964:Constitutively active
1576:Inflammatory myopathy
1020:neuromuscular disease
711:10.1002/mus.880070205
609:10.1212/wnl.58.8.1266
2350:Osteopetrosis A2, B4
2159:Romano–Ward syndrome
1775:Central core disease
1389:Central core disease
1271:cytoskeleton disease
243:end-plate potentials
154:improve this article
1904:Long QT syndrome 10
1581:Congenital myopathy
1558:Androgen deficiency
1518:Thyrotoxic myopathy
1116:Facioscapulohumeral
656:10.1007/164_2017_52
554:1991Natur.354..387R
417:are also effective.
2499:Vohwinkel syndrome
2489:Ichthyosis hystrix
2378:Bartter syndrome 3
2322:Myotonia congenita
2234:Long QT syndrome 7
2215:Bartter syndrome 2
2169:Long QT syndrome 1
2126:Brugada syndrome 5
2112:Long QT syndrome 6
2098:Long QT syndrome 5
1942:Febrile seizure 3B
1923:Long QT syndrome 3
1918:Brugada syndrome 1
1856:Brugada syndrome 6
1842:Febrile seizure 3A
1745:Brugada syndrome 4
1693:Long QT syndrome 8
1688:Brugada syndrome 3
1427:Metabolic myopathy
1353:Periodic paralysis
1315:Myotonia congenita
1083:Muscular dystrophy
921:External resources
411:thiazide diuretics
126:Signs and symptoms
74:autosomal dominant
2586:
2585:
2277:
2276:
2239:Short QT syndrome
2164:Short QT syndrome
2140:Short QT syndrome
2051:Episodic ataxia 1
2027:Potassium channel
2021:
2020:
1985:Liddle's syndrome
1804:
1803:
1707:Ocular albinism 2
1664:Episodic ataxia 2
1593:
1592:
1589:
1588:
1505:Hoffmann syndrome
1397:
1396:
1277:Nemaline myopathy
1216:
1215:
1047:Myasthenia gravis
977:
976:
665:978-3-319-90283-8
378:
377:
370:
352:
234:1.4 found at the
186:
185:
178:
121:action potential.
56:
55:
26:Medical condition
2616:
2283:Chloride channel
2200:Inward-rectifier
2032:
2031:
1815:
1814:
1683:Timothy syndrome
1640:
1639:
1620:
1613:
1606:
1597:
1596:
1535:Hypercortisolism
1446:AMPD1 deficiency
1402:ATPase disorder
1304:
1303:
1235:Bethlem myopathy
1229:collagen disease
1221:Other structural
1094:
1093:
1079:
1078:
1032:junction disease
1004:
997:
990:
981:
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758:10.1172/JCI25525
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2604:Channelopathies
2589:
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2425:
2384:
2317:Thomsen disease
2298:Cystic fibrosis
2273:
2194:
2017:
1958:
1937:Erythromelalgia
1800:
1751:
1635:Calcium channel
1629:
1624:
1594:
1585:
1564:
1480:
1421:
1393:
1377:
1347:
1337:Isaacs syndrome
1320:Thomsen disease
1288:
1212:
1175:
1130:
1111:Oculopharyngeal
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1068:
1030:
1022:
1008:
978:
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972:
946:article/1171678
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746:J. Clin. Invest
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548:(6352): 387–9.
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299:primary sources
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220:point mutations
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190:muscle weakness
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78:sodium channels
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2368:
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2336:Dent's disease
2326:
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2100:
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1810:Sodium channel
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1527:
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1502:
1490:
1488:
1486:Endocrinopathy
1482:
1481:
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1472:
1467:
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1357:
1355:
1349:
1348:
1346:
1341:
1340:
1339:
1329:
1328:
1327:
1325:Becker disease
1322:
1312:
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1300:
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1287:
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1284:
1279:
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1222:
1218:
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1210:
1208:Emery–Dreifuss
1205:
1204:
1203:
1198:
1185:
1183:
1177:
1176:
1174:
1173:
1172:
1171:
1169:Walker–Warburg
1166:
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1140:
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1128:
1123:
1118:
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1076:
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1060:
1059:
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1049:
1036:
1034:
1028:Neuromuscular-
1024:
1023:
1007:
1006:
999:
992:
984:
975:
974:
971:
970:
959:
948:
937:
925:
924:
922:
918:
917:
914:
913:
902:
891:
880:
869:
854:
838:
833:
832:
830:
829:Classification
823:
822:
815:
814:External links
812:
811:
810:
801:
800:
791:Neurology Asia
781:
732:
689:
664:
630:
603:(8): 1266–72.
583:
532:
517:
485:
459:
458:
456:
453:
452:
451:
444:
441:
440:
439:
436:
433:
418:
415:chlorothiazide
396:
389:
376:
375:
290:
288:
281:
275:
272:
263:
250:
249:to enter by Na
231:
215:
212:
184:
183:
142:
140:
133:
127:
124:
88:levels in the
54:
53:
48:
42:
41:
38:
34:
33:
25:
15:
9:
6:
4:
3:
2:
2621:
2610:
2609:Rare diseases
2607:
2605:
2602:
2600:
2597:
2596:
2594:
2581:
2580:
2573:
2565:
2562:
2561:
2560:
2559:
2555:
2554:
2552:
2550:
2546:
2538:
2535:
2534:
2533:
2532:
2528:
2524:
2521:
2519:
2516:
2515:
2514:
2513:
2509:
2505:
2500:
2497:
2495:
2492:
2490:
2487:
2485:
2482:
2481:
2480:
2479:
2475:
2471:
2468:
2467:
2466:
2465:
2461:
2457:
2454:
2452:
2449:
2447:
2444:
2443:
2442:
2441:
2437:
2436:
2434:
2432:
2428:
2420:
2417:
2416:
2415:
2414:
2410:
2406:
2403:
2402:
2401:
2400:
2396:
2395:
2393:
2391:
2387:
2379:
2376:
2375:
2374:
2373:
2369:
2365:
2362:
2361:
2360:
2359:
2355:
2351:
2348:
2347:
2346:
2345:
2341:
2337:
2334:
2333:
2332:
2331:
2327:
2323:
2320:
2318:
2315:
2314:
2313:
2312:
2308:
2304:
2301:
2299:
2296:
2295:
2294:
2293:
2289:
2288:
2286:
2284:
2280:
2268:
2265:
2264:
2263:
2262:
2258:
2254:
2251:
2250:
2249:
2248:
2244:
2240:
2237:
2235:
2232:
2230:
2227:
2226:
2225:
2224:
2220:
2216:
2213:
2212:
2211:
2210:
2206:
2205:
2203:
2201:
2197:
2189:
2186:
2185:
2184:
2183:
2179:
2175:
2172:
2170:
2167:
2165:
2162:
2160:
2157:
2155:
2152:
2151:
2150:
2149:
2145:
2141:
2138:
2137:
2136:
2135:
2131:
2127:
2124:
2123:
2122:
2121:
2117:
2113:
2110:
2109:
2108:
2107:
2103:
2099:
2096:
2094:
2091:
2090:
2089:
2088:
2084:
2080:
2077:
2076:
2075:
2074:
2070:
2066:
2063:
2062:
2061:
2060:
2056:
2052:
2049:
2048:
2047:
2046:
2042:
2041:
2039:
2037:
2036:Voltage-gated
2033:
2030:
2028:
2024:
2012:
2009:
2008:
2007:
2006:
2001:
2000:
1995:
1994:
1990:
1986:
1983:
1982:
1981:
1980:
1975:
1974:
1970:
1969:
1967:
1965:
1961:
1953:
1950:
1948:
1945:
1943:
1940:
1938:
1935:
1934:
1933:
1932:
1928:
1924:
1921:
1919:
1916:
1915:
1914:
1913:
1909:
1905:
1902:
1901:
1900:
1899:
1895:
1891:
1888:
1886:
1883:
1881:
1878:
1876:
1873:
1872:
1871:
1870:
1866:
1862:
1859:
1857:
1854:
1853:
1852:
1851:
1847:
1843:
1840:
1838:
1835:
1833:
1830:
1829:
1828:
1827:
1823:
1822:
1820:
1818:Voltage-gated
1816:
1813:
1811:
1807:
1795:
1792:
1790:
1787:
1786:
1785:
1784:
1780:
1776:
1773:
1771:
1768:
1767:
1766:
1765:
1761:
1760:
1758:
1754:
1746:
1743:
1742:
1741:
1740:
1736:
1732:
1729:
1727:
1724:
1723:
1722:
1721:
1717:
1713:
1710:
1708:
1705:
1704:
1703:
1702:
1698:
1694:
1691:
1689:
1686:
1684:
1681:
1680:
1679:
1678:
1674:
1670:
1667:
1665:
1662:
1660:
1657:
1656:
1655:
1654:
1650:
1649:
1647:
1645:
1644:Voltage-gated
1641:
1638:
1636:
1632:
1628:
1621:
1616:
1614:
1609:
1607:
1602:
1601:
1598:
1582:
1579:
1577:
1574:
1573:
1571:
1567:
1559:
1556:
1554:
1551:
1549:
1546:
1545:
1543:
1538:
1537:
1536:
1533:
1531:
1528:
1526:
1523:
1519:
1516:
1515:
1513:
1510:
1506:
1503:
1501:
1498:
1497:
1495:
1492:
1491:
1489:
1487:
1483:
1476:
1473:
1471:
1468:
1466:
1463:
1461:
1458:
1456:
1452:
1449:
1447:
1444:
1442:
1439:
1437:
1433:
1432:
1430:
1428:
1424:
1418:
1414:
1413:Brody disease
1411:
1409:
1404:
1403:
1400:
1390:
1387:
1386:
1384:
1380:
1374:
1371:
1367:
1364:
1363:
1362:
1359:
1358:
1356:
1354:
1350:
1345:
1342:
1338:
1335:
1334:
1333:
1332:Neuromyotonia
1330:
1326:
1323:
1321:
1318:
1317:
1316:
1313:
1311:
1309:
1305:
1302:
1298:(ion channel)
1297:
1296:
1295:
1294:Channelopathy
1291:
1283:
1280:
1278:
1275:
1274:
1273:
1272:
1268:
1264:
1261:
1260:
1259:
1258:
1254:
1250:
1247:
1246:
1245:
1244:
1240:
1236:
1233:
1232:
1231:
1230:
1226:
1225:
1223:
1219:
1209:
1206:
1202:
1199:
1197:
1194:
1193:
1192:
1191:
1187:
1186:
1184:
1182:
1178:
1170:
1167:
1165:
1162:
1160:
1157:
1156:
1155:
1152:
1150:
1147:
1145:
1144:Calpainopathy
1142:
1141:
1139:
1137:
1133:
1127:
1126:Distal (most)
1124:
1122:
1119:
1117:
1114:
1112:
1109:
1107:
1104:
1103:
1101:
1099:
1095:
1092:
1089:
1084:
1080:
1077:
1075:
1071:
1065:
1062:
1058:
1057:Neuromyotonia
1055:
1053:
1050:
1048:
1045:
1044:
1043:
1042:
1038:
1037:
1035:
1033:
1029:
1025:
1021:
1017:
1013:
1005:
1000:
998:
993:
991:
986:
985:
982:
969:
965:
964:
960:
958:
954:
953:
949:
947:
943:
942:
938:
936:
932:
931:
927:
926:
923:
919:
912:
908:
907:
903:
901:
897:
896:
892:
890:
886:
885:
881:
879:
875:
874:
870:
868:
864:
863:
859:
855:
853:
849:
848:
844:
840:
839:
836:
831:
827:
821:
818:
817:
809:
805:
804:
796:
792:
785:
777:
773:
768:
763:
759:
755:
752:(8): 2000–9.
751:
747:
743:
736:
728:
724:
720:
716:
712:
708:
705:(2): 110–20.
704:
700:
693:
685:
681:
676:
671:
667:
661:
657:
653:
649:
645:
641:
634:
626:
622:
618:
614:
610:
606:
602:
598:
594:
587:
579:
575:
571:
567:
563:
559:
555:
551:
547:
543:
536:
530:
526:
521:
508:
504:
500:
496:
489:
482:
477:
475:
473:
471:
469:
467:
465:
460:
450:
447:
446:
437:
434:
431:
427:
423:
419:
416:
412:
408:
407:acetazolamide
404:
400:
397:
394:
390:
387:
386:carbohydrates
383:
380:
379:
372:
369:
361:
350:
347:
343:
340:
336:
333:
329:
326:
322:
319: –
318:
314:
313:Find sources:
307:
301:
300:
296:
291:This section
289:
285:
280:
279:
271:
267:
259:
256:
248:
244:
239:
237:
229:
225:
221:
211:
209:
204:
202:
197:
195:
191:
180:
177:
169:
159:
155:
149:
148:
143:This section
141:
137:
132:
131:
123:
122:
118:
114:
110:
106:
101:
99:
95:
91:
87:
83:
79:
75:
72:
68:
64:
60:
52:
49:
47:
43:
39:
35:
30:
22:
2579:ion channels
2576:
2556:
2529:
2506:
2476:
2462:
2438:
2411:
2397:
2370:
2356:
2342:
2328:
2309:
2290:
2259:
2245:
2221:
2207:
2180:
2146:
2132:
2118:
2104:
2085:
2071:
2057:
2043:
2003:
1997:
1991:
1977:
1971:
1929:
1910:
1896:
1879:
1867:
1848:
1824:
1781:
1762:
1756:Ligand gated
1737:
1718:
1699:
1675:
1651:
1512:Hyperthyroid
1373:Hyperkalemic
1372:
1269:
1255:
1249:X-linked MTM
1241:
1227:
1188:
1039:
1010:Diseases of
961:
950:
939:
928:
904:
893:
882:
871:
856:
841:
794:
790:
784:
749:
745:
735:
702:
699:Muscle Nerve
698:
692:
647:
643:
633:
600:
596:
586:
545:
541:
535:
520:
510:, retrieved
498:
488:
420:Intravenous
391:Intravenous
364:
358:October 2023
355:
345:
338:
331:
324:
312:
292:
268:
260:
240:
223:
222:in the gene
217:
205:
201:hyperkalemia
198:
187:
172:
166:October 2023
163:
152:Please help
147:verification
144:
102:
66:
62:
58:
57:
2390:TRP channel
1494:Hypothyroid
1361:Hypokalemic
1243:PTP disease
952:GeneReviews
930:MedlinePlus
797:(2): 163–6.
430:Na-K ATPase
37:Other names
2593:Categories
2577:See also:
1405:(ion pump)
1366:Thyrotoxic
1282:Zaspopathy
1190:dystrophin
1154:Congenital
1041:autoimmune
895:DiseasesDB
512:2023-03-19
499:StatPearls
455:References
403:furosemide
328:newspapers
295:references
117:amino acid
1514:myopathy
1496:myopathy
941:eMedicine
911:278513006
906:SNOMED CT
597:Neurology
399:Diuretics
384:or other
274:Treatment
98:paralysis
94:potassium
86:potassium
71:inherited
51:Neurology
46:Specialty
2431:Connexin
1308:Myotonia
1201:Duchenne
1196:Becker's
1159:Fukuyama
1121:Myotonic
1074:Myopathy
963:Orphanet
776:16075040
727:25705002
684:28939973
625:10412539
617:11971097
527:(OMIM):
507:33231989
443:See also
413:such as
401:such as
214:Genetics
194:myotonia
105:mutation
69:) is an
67:HyperKPP
1861:GEFS+ 1
1837:GEFS+ 2
1720:CACNA1S
1701:CACNA1F
1677:CACNA1C
1653:CACNA1A
1569:General
1434:Muscle
1164:Ullrich
889:D020513
767:1180551
719:6325904
675:5866235
578:4372717
570:1659668
550:Bibcode
426:insulin
422:glucose
393:calcium
382:Glucose
342:scholar
2413:TRPML1
2372:CLCNKB
2261:KCNJ18
2247:KCNJ11
2005:SCNN1G
1999:SCNN1B
1993:SCNN1A
1979:SCNN1G
1973:SCNN1B
1739:CACNB2
1712:CSNB2A
1417:ATP2A1
1018:, and
1012:muscle
935:000316
878:170500
774:
764:
725:
717:
682:
672:
662:
623:
615:
576:
568:
542:Nature
505:
344:
337:
330:
323:
315:
113:muscle
82:muscle
2549:Porin
2405:FSGS2
2399:TRPC6
2358:BEST1
2344:CLCN7
2330:CLCN5
2311:CLCN1
2253:TNDM3
2223:KCNJ2
2209:KCNJ1
2188:BFNS1
2182:KCNQ2
2148:KCNQ1
2134:KCNH2
2120:KCNE3
2106:KCNE2
2087:KCNE1
2073:KCNC3
2059:KCNA5
2045:KCNA1
1931:SCN9A
1912:SCN5A
1898:SCN4B
1869:SCN4A
1850:SCN1B
1826:SCN1A
1794:ARVD2
1789:CPVT1
1475:MNGIE
1460:MERRF
1455:MELAS
1382:Other
867:359.3
852:G72.3
723:S2CID
621:S2CID
574:S2CID
349:JSTOR
335:books
224:SCN4A
109:SCN4A
90:blood
2558:AQP2
2531:GJB6
2512:GJB4
2508:GJB3
2478:GJB2
2464:GJB1
2440:GJA1
2292:CFTR
1783:RYR2
1764:RYR1
1088:DAPC
900:6252
884:MeSH
873:OMIM
862:9-CM
772:PMID
715:PMID
680:PMID
660:ISBN
613:PMID
566:PMID
503:PMID
424:and
409:and
321:news
247:ions
103:The
63:HYPP
1470:PEO
1465:KSS
968:682
858:ICD
843:ICD
762:PMC
754:doi
750:115
707:doi
670:PMC
652:doi
648:246
605:doi
558:doi
546:354
297:to
156:by
80:in
2595::
1181:XR
1136:AR
1098:AD
1014:,
966::
955::
944::
933::
909::
898::
887::
876::
865::
850::
847:10
795:16
793:.
770:.
760:.
748:.
744:.
721:.
713:.
701:.
678:.
668:.
658:.
642:.
619:.
611:.
601:58
599:.
595:.
572:.
564:.
556:.
544:.
497:,
463:^
308:.
230:Na
65:,
2510:/
2501:)
2002:/
1996:/
1976:/
1619:e
1612:t
1605:v
1477:)
1453:(
1419:)
1415:(
1090:)
1086:(
1003:e
996:t
989:v
860:-
845:-
835:D
778:.
756::
729:.
709::
703:7
686:.
654::
627:.
607::
580:.
560::
552::
371:)
365:(
360:)
356:(
346:·
339:·
332:·
325:·
302:.
264:v
251:v
232:v
179:)
173:(
168:)
164:(
150:.
61:(
23:.
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
