43:
160:, which impair channel function, are the most common cause of channelopathies. There are more than 400 genes that encode ion channels, found in all human cell types and are involved in almost all physiological processes. Each type of channel is a multimeric complex of subunits encoded by a number of genes. Depending where the
1268:
Smith, Richard S.; Kenny, Connor J.; Ganesh, Vijay; Jang, Ahram; Borges-Monroy, Rebeca; Partlow, Jennifer N.; Hill, R. Sean; Shin, Taehwan; Chen, Allen Y.; Doan, Ryan N.; Anttonen, Anna-Kaisa; Ignatius, Jaakko; Medne, Livija; Bönnemann, Carsten G.; Hecht, Jonathan L. (2018-09-05).
627:, building-up gradients (moving "uphill"). Historically the difference between the two seemed cut and dried; however, recent research has shown that in some ion transporters, it is not always clear whether it functions as a channel or a pump.
175:, the most common form of cardiac channelopathy, is characterized by prolonged ventricular repolarization, predisposing to a high risk of ventricular tachyarrhythmias (e.g., torsade de pointes), syncope, and sudden cardiac death.
1019:
Simons C, Rash LD, Crawford J, Ma L, Cristofori-Armstrong B, Miller D, et al. (January 2015). "Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy".
167:
Channelopathies can be categorized based on the organ system which they are associated with. In the cardiovascular system, the electrical impulse needed for each heartbeat is made possible by the
1521:
171:
of each heart cell. Because the heartbeat is dependent on the proper movement of ions across the surface membrane, cardiac channelopathies make up a key group of heart diseases.
1994:
1514:
2308:
276:
2811:
1965:
1507:
2380:
2356:
1494:
345:
311:
3003:
2231:
3130:
1989:
630:
Diseases involving ion pumps can produce symptoms similar to channelopathies, as they both involve the movement of ions across membranes.
3056:
2313:
3042:
1478:
The Weiss Lab is investigating the molecular and cellular mechanisms underlying human diseases caused by dysfunction of ion channels
2019:
2137:
218:
Mutations in genes encoding ion channels, which cause defects in channel function, are the most common cause of channelopathies.
2822:
2719:
1678:
1635:
294:
1727:
1683:
1607:
1571:
406:
649:
Due to similar symptoms, different genes for both channels and pumps can be associated with the same disease. For instance,
3260:
2909:
2772:
2989:
1499:
2924:
2673:
2612:
1776:
1630:
638:, including muscle stiffness and cramping after initiating exercise (delayed muscle relaxation). However, it is pseudo-
1386:
Song YW, Kim SJ, Heo TH, Kim MH, Kim JB (December 2012). "Normokalemic periodic paralysis is not a distinct disease".
2707:
2163:
3123:
2471:
2466:
2975:
2970:
2555:
2399:
1892:
849:
Vargas-Alarcon G, Alvarez-Leon E, Fragoso JM, Vargas A, Martinez A, Vallejo M, Martinez-Lavin M (February 2012).
376:
328:
17:
3083:
3037:
2598:
2394:
2245:
1960:
1880:
1715:
1668:
1625:
1583:
1551:
1547:
591:
386:
1110:
Mulley JC, Scheffer IE, Petrou S, Berkovic SF (April 2003). "Channelopathies as a genetic cause of epilepsy".
3280:
2959:
2883:
2786:
2409:
2250:
2188:
2072:
1885:
1673:
548:
1213:
Braz, LuĂs; Soares-Dos-Reis, Ricardo; Seabra, Mafalda; Silveira, Fernando; GuimarĂŁes, Joana (October 2019).
623:, down electrical and concentration gradients (moving "downhilll"); whereas pumps move ions slowly, through
2693:
2584:
2351:
2178:
1768:
1762:
355:
851:"A SCN9A gene-encoded dorsal root ganglia sodium channel polymorphism associated with severe fibromyalgia"
3116:
2965:
2748:
2130:
1720:
1688:
1271:"Sodium channel SCN3A (NaV1.3) regulation of human cerebral cortical folding and oral motor development"
3228:
3013:
289:
234:
The types in the following table are commonly accepted. Channelopathies currently under research, like
164:
occurs it may affect the gating, conductance, ion selectivity, or signal transduction of the channel.
2483:
1984:
1645:
670:
3324:
3223:
2678:
1955:
1446:
168:
2530:
2067:
900:
Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN, et al. (September 2018).
115:
747:
Imbrici P, Liantonio A, Camerino GM, De Bellis M, Camerino C, Mele A, et al. (2016-05-10).
2404:
2289:
2123:
1970:
1863:
1782:
1535:
494:
431:
191:
79:
63:
3190:
3175:
3098:
2938:
2095:
1539:
1067:(January 2009). "Seizures and arrhythmias: Differing phenotypes of a common channelopathy?".
484:
441:
316:
42:
2504:
2294:
1908:
973:
807:
619:
are ion transporters which move ions across membranes. Channels move ions quickly, through
527:
461:
421:
282:
749:"Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery"
8:
3149:
2100:
2077:
2049:
2037:
1655:
1529:
977:
811:
3169:
3139:
3018:
3008:
2841:
2044:
1946:
1872:
1834:
1700:
1640:
1617:
1602:
1465:
1411:
1363:
1303:
1270:
1250:
1190:
1157:
1135:
1092:
1080:
1045:
996:
957:
930:
901:
877:
850:
831:
775:
748:
724:
699:
635:
499:
451:
239:
187:
183:
96:
90:
3157:
2855:
2758:
2683:
2659:
2546:
2024:
2005:
1796:
1566:
1403:
1355:
1347:
1308:
1290:
1254:
1242:
1234:
1195:
1177:
1127:
1123:
1096:
1084:
1037:
1001:
935:
882:
823:
780:
729:
620:
538:
70:
1415:
1367:
1230:
1139:
1049:
3200:
3165:
2897:
2802:
2753:
2734:
2688:
2645:
2631:
2617:
2442:
2437:
2423:
2375:
2264:
2212:
2207:
2202:
2054:
1754:
1748:
1395:
1339:
1298:
1282:
1226:
1185:
1169:
1119:
1076:
1029:
991:
981:
925:
917:
872:
862:
835:
815:
770:
760:
719:
711:
643:
624:
561:
416:
266:
256:
172:
75:
55:
51:
226:
Acquired channelopathies are caused by acquired disorders, drug use, toxins, etc.
3068:
2836:
2817:
2570:
2461:
2456:
2361:
2226:
2183:
2154:
1856:
1839:
1451:
1328:"Polymicrogyria: a common and heterogeneous malformation of cortical development"
1286:
956:
Smith RS, Florio M, Akula SK, Neil JE, Wang Y, Hill RS, et al. (June 2021).
921:
616:
335:
323:
301:
179:
100:
59:
2329:
1979:
1974:
1932:
1844:
1468:
by Carl E. Stafstrom, M.D., at the UW-Madison Health
Sciences Learning Center.
1064:
966:
Proceedings of the
National Academy of Sciences of the United States of America
650:
631:
510:
121:
108:
906:
1.3) Regulation of Human
Cerebral Cortical Folding and Oral Motor Development"
182:
include hyper- and hypokalemic (high and low potassium blood concentrations)
3318:
3301:
3255:
2869:
1851:
1663:
1576:
1351:
1294:
1238:
1181:
765:
474:
397:
1327:
1214:
986:
867:
715:
3285:
3265:
2877:
2115:
2031:
1790:
1407:
1359:
1312:
1246:
1199:
1131:
1088:
1041:
1005:
939:
886:
827:
784:
733:
366:
202:
1484:
1332:
American
Journal of Medical Genetics. Part C, Seminars in Medical Genetics
3275:
3270:
3247:
3185:
3077:
2013:
1343:
612:
157:
141:
1438:
3295:
3218:
1801:
1709:
1560:
1158:"Ion channels versus ion pumps: the principal difference, in principle"
848:
83:
1399:
3213:
3208:
3108:
466:
1173:
1033:
819:
2950:
1827:
1593:
639:
571:
161:
149:
145:
1485:
The
Channelopathy Foundation - Foundation for Ion Channel diseases
27:
Diseases caused by dysfunction of ion channels or related proteins
3238:
3180:
1212:
746:
581:
198:
104:
2932:
2891:
2780:
2766:
2524:
2518:
2512:
2498:
2492:
2258:
2239:
2220:
2196:
2172:
1936:
1531:
658:
520:
235:
152:
or acquired by other disorders, drugs, or toxins. Mutations in
2918:
2863:
2849:
2830:
2742:
2701:
2667:
2653:
2639:
2625:
2606:
2592:
2578:
2564:
2450:
2431:
2417:
2388:
2369:
2345:
1473:
654:
598:
554:
517:
1109:
634:(also known as Brody myopathy) includes symptoms similar to
3050:
3031:
3027:
2997:
2983:
2728:
2302:
2283:
153:
842:
50:
Sodium channel, implicated in channelopathies including
1326:
Stutterd, Chloe A.; Leventer, Richard J. (June 2014).
1489:
277:
Catecholaminergic polymorphic ventricular tachycardia
140:
are a group of diseases caused by the dysfunction of
1428:
1267:
1018:
955:
899:
798:
Marbán E (January 2002). "Cardiac channelopathies".
661:, among other genes that are not ion transporters.
576:Voltage-gated potassium channel of the KCNQ family
365:Associated with one particular disabling form of
3316:
1325:
606:
346:Generalized epilepsy with febrile seizures plus
1215:"Brody disease: when myotonia is not myotonia"
3124:
2131:
1515:
1385:
2145:
1103:
1056:
1012:
3148:Mechanisms for chemical transport through
3131:
3117:
2138:
2124:
1522:
1508:
1062:
653:has been associated with the channel gene
41:
3043:Progressive symmetric erythrokeratodermia
1302:
1189:
995:
985:
929:
876:
866:
774:
764:
723:
3057:Clouston's hidrotic ectodermal dysplasia
642:as those with Brody disease have normal
1495:Rare Diseases Clinical Research Network
533:Ligand-gated non-specific ion channels
14:
3317:
3138:
3004:Keratitis–ichthyosis–deafness syndrome
2823:Congenital absence of the vas deferens
1162:Nature Reviews. Molecular Cell Biology
1155:
797:
295:Inward-rectifier potassium ion channel
3112:
2119:
1503:
1151:
1149:
543:various potassium channels suspected
3261:Non-specific, adsorptive pinocytosis
951:
949:
693:
691:
689:
687:
586:Voltage-dependent potassium channel
697:
456:Voltage-dependent chloride channel
396:voltage-dependent calcium channel (
24:
2674:Jervell and Lange-Nielsen syndrome
2613:Jervell and Lange-Nielsen syndrome
1783:BIN1-linked centronuclear myopathy
1146:
1081:10.1212/01.wnl.0000339490.98283.c5
566:Voltage-dependent calcium channel
25:
3336:
2064:Testosterone deficiency myopathy
1572:Lambert–Eaton myasthenic syndrome
1424:
946:
684:
597:Voltage-gated potassium channel,
553:Voltage-gated potassium channel,
407:Lambert–Eaton myasthenic syndrome
3084:Nephrogenic diabetes insipidus 2
2472:Congenital insensitivity to pain
2467:Paroxysmal extreme pain disorder
2395:Hypokalemic periodic paralysis 2
2246:Hypokalemic periodic paralysis 1
2020:Kocher–Debre–Semelaigne syndrome
1669:Limb-girdle muscular dystrophy 2
1626:Limb-girdle muscular dystrophy 1
1124:10.1097/00019052-200304000-00009
479:Voltage-gated potassium channel
221:
2976:Hypoplastic left heart syndrome
2787:Thyrotoxic periodic paralysis 2
2400:Hyperkalemic periodic paralysis
2251:Thyrotoxic periodic paralysis 1
1378:
1319:
1261:
1231:10.1136/practneurol-2019-002224
1206:
958:"Early role for a Na,K-ATPase (
377:Hyperkalemic periodic paralysis
329:Voltage-gated potassium channel
213:
3038:Erythrokeratodermia variabilis
2990:Charcot–Marie–Tooth disease X1
2694:Familial atrial fibrillation 3
2599:Spinocerebellar ataxia type-13
2585:Familial atrial fibrillation 7
2352:Familial hemiplegic migraine 3
2179:Familial hemiplegic migraine 1
1961:Fatty-acid metabolism disorder
1584:Congenital myasthenic syndrome
893:
791:
740:
516:Voltage-gated sodium channel,
411:Voltage-gated calcium channel
387:Hypokalemic periodic paralysis
144:subunits or their interacting
13:
1:
3281:Receptor-mediated endocytosis
2884:Vitelliform macular dystrophy
2410:Potassium-aggravated myotonia
2189:Spinocerebellar ataxia type-6
2073:Hypogonadotropic hypogonadism
1466:Channel Surfing in Pediatrics
1156:Gadsby, David C. (May 2009).
855:BMC Musculoskeletal Disorders
677:
607:Ion channels versus ion pumps
505:Voltage-gated sodium channel
446:Non-selective cation channel
436:Ligand-gated calcium channel
381:Voltage-gated sodium channel
371:Voltage-gated sodium channel
350:Voltage-gated sodium channel
340:Voltage-gated sodium channel
178:The channelopathies of human
120:Dependent on type. Include:
95:Dependent on type. Include:
1287:10.1016/j.neuron.2018.07.052
1112:Current Opinion in Neurology
922:10.1016/j.neuron.2018.07.052
704:Korean Journal of Pediatrics
391:Voltage-gated sodium channel
356:Familial hemiplegic migraine
317:Voltage-gated sodium channel
7:
2971:Hallermann–Streiff syndrome
2966:Oculodentodigital dysplasia
2531:Pseudohypoaldosteronism 1AR
664:
244:
10:
3341:
3229:Secondary active transport
1490:Cystic Fibrosis Foundation
671:Template: ATPase disorders
592:Zimmermann–Laband syndrome
290:Congenital hyperinsulinism
197:Channelopathies affecting
3294:
3246:
3237:
3199:
3156:
3146:
3094:
3067:
2949:
2908:
2801:
2718:
2554:
2545:
2482:
2337:
2328:
2275:
2162:
2153:
2088:
2050:Hyperparathyroid myopathy
2004:
1945:
1921:
1901:
1871:
1826:
1812:
1740:
1699:
1654:
1616:
1601:
1592:
1546:
1432:
902:"Sodium Channel SCN3A (Na
753:Frontiers in Pharmacology
549:Temple–Baraitser syndrome
208:
127:
114:
89:
69:
49:
40:
35:
3224:Primary active transport
2147:Diseases of ion channels
2045:Hypoparathyroid myopathy
1956:Glycogen storage disease
766:10.3389/fphar.2016.00121
229:
169:electrochemical gradient
148:. These diseases can be
2749:Andersen–Tawil syndrome
2068:Late-onset hypogonadism
2059:Corticosteroid myopathy
1777:adaptor protein disease
987:10.1073/pnas.2023333118
962:) in brain development"
868:10.1186/1471-2474-13-23
716:10.3345/kjp.2014.57.1.1
698:Kim JB (January 2014).
201:function are a type of
3014:Bart–Pumphrey syndrome
2405:Paramyotonia congenita
2290:Malignant hyperthermia
1971:Mitochondrial myopathy
1864:Paramyotonia congenita
1536:neuromuscular junction
495:Paramyotonia congenita
432:Malignant hyperthermia
192:paramyotonia congenita
80:Neuromuscular medicine
64:Paramyotonia congenita
3176:Facilitated diffusion
2939:Mucolipidosis type IV
2484:Constitutively active
2096:Inflammatory myopathy
1540:neuromuscular disease
513:(brain malformation)
485:Nonsyndromic deafness
442:Mucolipidosis type IV
238:potassium channel in
3150:biological membranes
2870:Osteopetrosis A2, B4
2679:Romano–Ward syndrome
2295:Central core disease
1909:Central core disease
1791:cytoskeleton disease
1344:10.1002/ajmg.c.31399
528:Retinitis pigmentosa
462:Neuromyelitis optica
422:Romano-Ward syndrome
242:, are not included.
2424:Long QT syndrome 10
2101:Congenital myopathy
2078:Androgen deficiency
2038:Thyrotoxic myopathy
1636:Facioscapulohumeral
1219:Practical Neurology
978:2021PNAS..11823333S
972:(25): e2023333118.
812:2002Natur.415..213M
3170:mediated transport
3140:Membrane transport
3019:Vohwinkel syndrome
3009:Ichthyosis hystrix
2898:Bartter syndrome 3
2842:Myotonia congenita
2754:Long QT syndrome 7
2735:Bartter syndrome 2
2689:Long QT syndrome 1
2646:Brugada syndrome 5
2632:Long QT syndrome 6
2618:Long QT syndrome 5
2462:Febrile seizure 3B
2443:Long QT syndrome 3
2438:Brugada syndrome 1
2376:Brugada syndrome 6
2362:Febrile seizure 3A
2265:Brugada syndrome 4
2213:Long QT syndrome 8
2208:Brugada syndrome 3
1947:Metabolic myopathy
1873:Periodic paralysis
1835:Myotonia congenita
1603:Muscular dystrophy
1388:Muscle & Nerve
657:and the pump gene
636:myotonia congenita
500:periodic paralysis
452:Myotonia congenita
283:Ryanodine receptor
240:multiple sclerosis
188:myotonia congenita
184:periodic paralysis
3312:
3311:
3308:
3307:
3158:Passive transport
3106:
3105:
2797:
2796:
2759:Short QT syndrome
2684:Short QT syndrome
2660:Short QT syndrome
2571:Episodic ataxia 1
2547:Potassium channel
2541:
2540:
2505:Liddle's syndrome
2324:
2323:
2227:Ocular albinism 2
2184:Episodic ataxia 2
2113:
2112:
2109:
2108:
2025:Hoffmann syndrome
1917:
1916:
1797:Nemaline myopathy
1736:
1735:
1567:Myasthenia gravis
1461:
1460:
1400:10.1002/mus.23441
1281:(5): 905–913.e7.
916:(5): 905–913.e7.
806:(6868): 213–218.
700:"Channelopathies"
621:passive transport
604:
603:
539:Short QT syndrome
469:-4 water channel
426:various, by type
306:Chloride channel
271:various, by type
261:various, by type
135:
134:
30:Medical condition
16:(Redirected from
3332:
3244:
3243:
3201:Active transport
3166:Simple diffusion
3133:
3126:
3119:
3110:
3109:
2803:Chloride channel
2720:Inward-rectifier
2552:
2551:
2335:
2334:
2203:Timothy syndrome
2160:
2159:
2140:
2133:
2126:
2117:
2116:
2055:Hypercortisolism
1966:AMPD1 deficiency
1922:ATPase disorder
1824:
1823:
1755:Bethlem myopathy
1749:collagen disease
1741:Other structural
1614:
1613:
1599:
1598:
1552:junction disease
1524:
1517:
1510:
1501:
1500:
1481:
1430:
1429:
1419:
1372:
1371:
1323:
1317:
1316:
1306:
1265:
1259:
1258:
1210:
1204:
1203:
1193:
1153:
1144:
1143:
1107:
1101:
1100:
1060:
1054:
1053:
1016:
1010:
1009:
999:
989:
953:
944:
943:
933:
897:
891:
890:
880:
870:
846:
840:
839:
795:
789:
788:
778:
768:
744:
738:
737:
727:
695:
625:active transport
562:Timothy syndrome
417:Long QT syndrome
267:Brugada syndrome
257:Bartter syndrome
245:
173:Long QT syndrome
131:Genetic variants
76:Medical genetics
56:Long QT syndrome
52:Brugada syndrome
45:
33:
32:
21:
3340:
3339:
3335:
3334:
3333:
3331:
3330:
3329:
3325:Channelopathies
3315:
3314:
3313:
3304:
3290:
3233:
3195:
3152:
3142:
3137:
3107:
3102:
3090:
3063:
2945:
2904:
2837:Thomsen disease
2818:Cystic fibrosis
2793:
2714:
2537:
2478:
2457:Erythromelalgia
2320:
2271:
2155:Calcium channel
2149:
2144:
2114:
2105:
2084:
2000:
1941:
1913:
1897:
1867:
1857:Isaacs syndrome
1840:Thomsen disease
1808:
1732:
1695:
1650:
1631:Oculopharyngeal
1605:
1588:
1550:
1542:
1528:
1474:"The Weiss Lab"
1472:
1462:
1457:
1456:
1441:
1427:
1422:
1381:
1376:
1375:
1324:
1320:
1266:
1262:
1211:
1207:
1174:10.1038/nrm2668
1154:
1147:
1108:
1104:
1061:
1057:
1034:10.1038/ng.3153
1022:Nature Genetics
1017:
1013:
954:
947:
905:
898:
894:
847:
843:
820:10.1038/415213a
796:
792:
745:
741:
696:
685:
680:
667:
609:
497:
419:
394:
392:
336:Erythromelalgia
324:Episodic ataxia
312:Dravet syndrome
302:Cystic fibrosis
232:
224:
216:
211:
180:skeletal muscle
138:Channelopathies
101:muscle weakness
60:Dravet syndrome
31:
28:
23:
22:
18:Channelopathies
15:
12:
11:
5:
3338:
3328:
3327:
3310:
3309:
3306:
3305:
3300:
3298:
3292:
3291:
3289:
3288:
3283:
3278:
3273:
3268:
3263:
3258:
3252:
3250:
3241:
3235:
3234:
3232:
3231:
3226:
3221:
3216:
3211:
3205:
3203:
3197:
3196:
3194:
3193:
3188:
3183:
3178:
3173:
3162:
3160:
3154:
3153:
3147:
3144:
3143:
3136:
3135:
3128:
3121:
3113:
3104:
3103:
3095:
3092:
3091:
3089:
3088:
3087:
3086:
3073:
3071:
3065:
3064:
3062:
3061:
3060:
3059:
3047:
3046:
3045:
3040:
3024:
3023:
3022:
3016:
3011:
3006:
2994:
2993:
2992:
2980:
2979:
2978:
2973:
2968:
2955:
2953:
2947:
2946:
2944:
2943:
2942:
2941:
2929:
2928:
2927:
2914:
2912:
2906:
2905:
2903:
2902:
2901:
2900:
2888:
2887:
2886:
2874:
2873:
2872:
2860:
2859:
2858:
2856:Dent's disease
2846:
2845:
2844:
2839:
2827:
2826:
2825:
2820:
2807:
2805:
2799:
2798:
2795:
2794:
2792:
2791:
2790:
2789:
2777:
2776:
2775:
2763:
2762:
2761:
2756:
2751:
2739:
2738:
2737:
2724:
2722:
2716:
2715:
2713:
2712:
2711:
2710:
2698:
2697:
2696:
2691:
2686:
2681:
2676:
2664:
2663:
2662:
2650:
2649:
2648:
2636:
2635:
2634:
2622:
2621:
2620:
2615:
2603:
2602:
2601:
2589:
2588:
2587:
2575:
2574:
2573:
2560:
2558:
2549:
2543:
2542:
2539:
2538:
2536:
2535:
2534:
2533:
2509:
2508:
2507:
2488:
2486:
2480:
2479:
2477:
2476:
2475:
2474:
2469:
2464:
2459:
2447:
2446:
2445:
2440:
2428:
2427:
2426:
2414:
2413:
2412:
2407:
2402:
2397:
2385:
2384:
2383:
2378:
2366:
2365:
2364:
2359:
2354:
2341:
2339:
2332:
2330:Sodium channel
2326:
2325:
2322:
2321:
2319:
2318:
2317:
2316:
2311:
2299:
2298:
2297:
2292:
2279:
2277:
2273:
2272:
2270:
2269:
2268:
2267:
2255:
2254:
2253:
2248:
2236:
2235:
2234:
2229:
2217:
2216:
2215:
2210:
2205:
2193:
2192:
2191:
2186:
2181:
2168:
2166:
2157:
2151:
2150:
2143:
2142:
2135:
2128:
2120:
2111:
2110:
2107:
2106:
2104:
2103:
2098:
2092:
2090:
2086:
2085:
2083:
2082:
2081:
2080:
2075:
2070:
2062:
2061:
2060:
2052:
2047:
2042:
2041:
2040:
2029:
2028:
2027:
2022:
2010:
2008:
2006:Endocrinopathy
2002:
2001:
1999:
1998:
1992:
1987:
1982:
1977:
1968:
1963:
1958:
1951:
1949:
1943:
1942:
1940:
1930:
1928:
1927:
1926:
1919:
1918:
1915:
1914:
1912:
1911:
1905:
1903:
1899:
1898:
1896:
1895:
1890:
1889:
1888:
1877:
1875:
1869:
1868:
1866:
1861:
1860:
1859:
1849:
1848:
1847:
1845:Becker disease
1842:
1832:
1830:
1821:
1820:
1819:
1810:
1809:
1807:
1806:
1805:
1804:
1799:
1787:
1786:
1785:
1773:
1772:
1771:
1759:
1758:
1757:
1744:
1742:
1738:
1737:
1734:
1733:
1731:
1730:
1728:Emery–Dreifuss
1725:
1724:
1723:
1718:
1705:
1703:
1697:
1696:
1694:
1693:
1692:
1691:
1689:Walker–Warburg
1686:
1681:
1671:
1666:
1660:
1658:
1652:
1651:
1649:
1648:
1643:
1638:
1633:
1628:
1622:
1620:
1611:
1596:
1590:
1589:
1587:
1586:
1581:
1580:
1579:
1574:
1569:
1556:
1554:
1548:Neuromuscular-
1544:
1543:
1527:
1526:
1519:
1512:
1504:
1498:
1497:
1492:
1487:
1482:
1459:
1458:
1455:
1454:
1442:
1437:
1436:
1434:
1433:Classification
1426:
1425:External links
1423:
1421:
1420:
1394:(6): 914–916.
1382:
1380:
1377:
1374:
1373:
1338:(2): 227–239.
1318:
1260:
1225:(5): 417–419.
1205:
1168:(5): 344–352.
1145:
1118:(2): 171–176.
1102:
1075:(3): 208–209.
1055:
1011:
945:
903:
892:
841:
790:
739:
682:
681:
679:
676:
675:
674:
666:
663:
651:polymicrogyria
608:
605:
602:
601:
595:
588:
587:
584:
578:
577:
574:
568:
567:
564:
558:
557:
551:
545:
544:
541:
535:
534:
531:
524:
523:
514:
511:Polymicrogyria
507:
506:
503:
491:
490:
487:
481:
480:
477:
471:
470:
464:
458:
457:
454:
448:
447:
444:
438:
437:
434:
428:
427:
424:
413:
412:
409:
403:
402:
389:
383:
382:
379:
373:
372:
369:
362:
361:
358:
352:
351:
348:
342:
341:
338:
332:
331:
326:
320:
319:
314:
308:
307:
304:
298:
297:
292:
286:
285:
280:
273:
272:
269:
263:
262:
259:
253:
252:
249:
231:
228:
223:
220:
215:
212:
210:
207:
133:
132:
129:
125:
124:
118:
112:
111:
109:breathlessness
93:
87:
86:
73:
67:
66:
47:
46:
38:
37:
29:
26:
9:
6:
4:
3:
2:
3337:
3326:
3323:
3322:
3320:
3303:
3302:Degranulation
3299:
3297:
3293:
3287:
3284:
3282:
3279:
3277:
3274:
3272:
3269:
3267:
3264:
3262:
3259:
3257:
3256:Efferocytosis
3254:
3253:
3251:
3249:
3245:
3242:
3240:
3236:
3230:
3227:
3225:
3222:
3220:
3217:
3215:
3212:
3210:
3207:
3206:
3204:
3202:
3198:
3192:
3189:
3187:
3184:
3182:
3179:
3177:
3174:
3171:
3167:
3164:
3163:
3161:
3159:
3155:
3151:
3145:
3141:
3134:
3129:
3127:
3122:
3120:
3115:
3114:
3111:
3101:
3100:
3093:
3085:
3082:
3081:
3080:
3079:
3075:
3074:
3072:
3070:
3066:
3058:
3055:
3054:
3053:
3052:
3048:
3044:
3041:
3039:
3036:
3035:
3034:
3033:
3029:
3025:
3020:
3017:
3015:
3012:
3010:
3007:
3005:
3002:
3001:
3000:
2999:
2995:
2991:
2988:
2987:
2986:
2985:
2981:
2977:
2974:
2972:
2969:
2967:
2964:
2963:
2962:
2961:
2957:
2956:
2954:
2952:
2948:
2940:
2937:
2936:
2935:
2934:
2930:
2926:
2923:
2922:
2921:
2920:
2916:
2915:
2913:
2911:
2907:
2899:
2896:
2895:
2894:
2893:
2889:
2885:
2882:
2881:
2880:
2879:
2875:
2871:
2868:
2867:
2866:
2865:
2861:
2857:
2854:
2853:
2852:
2851:
2847:
2843:
2840:
2838:
2835:
2834:
2833:
2832:
2828:
2824:
2821:
2819:
2816:
2815:
2814:
2813:
2809:
2808:
2806:
2804:
2800:
2788:
2785:
2784:
2783:
2782:
2778:
2774:
2771:
2770:
2769:
2768:
2764:
2760:
2757:
2755:
2752:
2750:
2747:
2746:
2745:
2744:
2740:
2736:
2733:
2732:
2731:
2730:
2726:
2725:
2723:
2721:
2717:
2709:
2706:
2705:
2704:
2703:
2699:
2695:
2692:
2690:
2687:
2685:
2682:
2680:
2677:
2675:
2672:
2671:
2670:
2669:
2665:
2661:
2658:
2657:
2656:
2655:
2651:
2647:
2644:
2643:
2642:
2641:
2637:
2633:
2630:
2629:
2628:
2627:
2623:
2619:
2616:
2614:
2611:
2610:
2609:
2608:
2604:
2600:
2597:
2596:
2595:
2594:
2590:
2586:
2583:
2582:
2581:
2580:
2576:
2572:
2569:
2568:
2567:
2566:
2562:
2561:
2559:
2557:
2556:Voltage-gated
2553:
2550:
2548:
2544:
2532:
2529:
2528:
2527:
2526:
2521:
2520:
2515:
2514:
2510:
2506:
2503:
2502:
2501:
2500:
2495:
2494:
2490:
2489:
2487:
2485:
2481:
2473:
2470:
2468:
2465:
2463:
2460:
2458:
2455:
2454:
2453:
2452:
2448:
2444:
2441:
2439:
2436:
2435:
2434:
2433:
2429:
2425:
2422:
2421:
2420:
2419:
2415:
2411:
2408:
2406:
2403:
2401:
2398:
2396:
2393:
2392:
2391:
2390:
2386:
2382:
2379:
2377:
2374:
2373:
2372:
2371:
2367:
2363:
2360:
2358:
2355:
2353:
2350:
2349:
2348:
2347:
2343:
2342:
2340:
2338:Voltage-gated
2336:
2333:
2331:
2327:
2315:
2312:
2310:
2307:
2306:
2305:
2304:
2300:
2296:
2293:
2291:
2288:
2287:
2286:
2285:
2281:
2280:
2278:
2274:
2266:
2263:
2262:
2261:
2260:
2256:
2252:
2249:
2247:
2244:
2243:
2242:
2241:
2237:
2233:
2230:
2228:
2225:
2224:
2223:
2222:
2218:
2214:
2211:
2209:
2206:
2204:
2201:
2200:
2199:
2198:
2194:
2190:
2187:
2185:
2182:
2180:
2177:
2176:
2175:
2174:
2170:
2169:
2167:
2165:
2164:Voltage-gated
2161:
2158:
2156:
2152:
2148:
2141:
2136:
2134:
2129:
2127:
2122:
2121:
2118:
2102:
2099:
2097:
2094:
2093:
2091:
2087:
2079:
2076:
2074:
2071:
2069:
2066:
2065:
2063:
2058:
2057:
2056:
2053:
2051:
2048:
2046:
2043:
2039:
2036:
2035:
2033:
2030:
2026:
2023:
2021:
2018:
2017:
2015:
2012:
2011:
2009:
2007:
2003:
1996:
1993:
1991:
1988:
1986:
1983:
1981:
1978:
1976:
1972:
1969:
1967:
1964:
1962:
1959:
1957:
1953:
1952:
1950:
1948:
1944:
1938:
1934:
1933:Brody disease
1931:
1929:
1924:
1923:
1920:
1910:
1907:
1906:
1904:
1900:
1894:
1891:
1887:
1884:
1883:
1882:
1879:
1878:
1876:
1874:
1870:
1865:
1862:
1858:
1855:
1854:
1853:
1852:Neuromyotonia
1850:
1846:
1843:
1841:
1838:
1837:
1836:
1833:
1831:
1829:
1825:
1822:
1818:(ion channel)
1817:
1816:
1815:
1814:Channelopathy
1811:
1803:
1800:
1798:
1795:
1794:
1793:
1792:
1788:
1784:
1781:
1780:
1779:
1778:
1774:
1770:
1767:
1766:
1765:
1764:
1760:
1756:
1753:
1752:
1751:
1750:
1746:
1745:
1743:
1739:
1729:
1726:
1722:
1719:
1717:
1714:
1713:
1712:
1711:
1707:
1706:
1704:
1702:
1698:
1690:
1687:
1685:
1682:
1680:
1677:
1676:
1675:
1672:
1670:
1667:
1665:
1664:Calpainopathy
1662:
1661:
1659:
1657:
1653:
1647:
1646:Distal (most)
1644:
1642:
1639:
1637:
1634:
1632:
1629:
1627:
1624:
1623:
1621:
1619:
1615:
1612:
1609:
1604:
1600:
1597:
1595:
1591:
1585:
1582:
1578:
1577:Neuromyotonia
1575:
1573:
1570:
1568:
1565:
1564:
1563:
1562:
1558:
1557:
1555:
1553:
1549:
1545:
1541:
1537:
1533:
1525:
1520:
1518:
1513:
1511:
1506:
1505:
1502:
1496:
1493:
1491:
1488:
1486:
1483:
1479:
1475:
1471:
1470:
1469:
1467:
1453:
1449:
1448:
1444:
1443:
1440:
1435:
1431:
1417:
1413:
1409:
1405:
1401:
1397:
1393:
1389:
1384:
1383:
1369:
1365:
1361:
1357:
1353:
1349:
1345:
1341:
1337:
1333:
1329:
1322:
1314:
1310:
1305:
1300:
1296:
1292:
1288:
1284:
1280:
1276:
1272:
1264:
1256:
1252:
1248:
1244:
1240:
1236:
1232:
1228:
1224:
1220:
1216:
1209:
1201:
1197:
1192:
1187:
1183:
1179:
1175:
1171:
1167:
1163:
1159:
1152:
1150:
1141:
1137:
1133:
1129:
1125:
1121:
1117:
1113:
1106:
1098:
1094:
1090:
1086:
1082:
1078:
1074:
1070:
1066:
1059:
1051:
1047:
1043:
1039:
1035:
1031:
1027:
1023:
1015:
1007:
1003:
998:
993:
988:
983:
979:
975:
971:
967:
963:
961:
952:
950:
941:
937:
932:
927:
923:
919:
915:
911:
907:
896:
888:
884:
879:
874:
869:
864:
860:
856:
852:
845:
837:
833:
829:
825:
821:
817:
813:
809:
805:
801:
794:
786:
782:
777:
772:
767:
762:
758:
754:
750:
743:
735:
731:
726:
721:
717:
713:
709:
705:
701:
694:
692:
690:
688:
683:
672:
669:
668:
662:
660:
656:
652:
647:
645:
641:
637:
633:
632:Brody disease
628:
626:
622:
618:
614:
600:
596:
593:
590:
589:
585:
583:
580:
579:
575:
573:
570:
569:
565:
563:
560:
559:
556:
552:
550:
547:
546:
542:
540:
537:
536:
532:
530:(some forms)
529:
526:
525:
522:
519:
515:
512:
509:
508:
504:
501:
496:
493:
492:
488:
486:
483:
482:
478:
476:
475:Neuromyotonia
473:
472:
468:
465:
463:
460:
459:
455:
453:
450:
449:
445:
443:
440:
439:
435:
433:
430:
429:
425:
423:
418:
415:
414:
410:
408:
405:
404:
401:
399:
398:calciumopathy
390:
388:
385:
384:
380:
378:
375:
374:
370:
368:
364:
363:
359:
357:
354:
353:
349:
347:
344:
343:
339:
337:
334:
333:
330:
327:
325:
322:
321:
318:
315:
313:
310:
309:
305:
303:
300:
299:
296:
293:
291:
288:
287:
284:
281:
278:
275:
274:
270:
268:
265:
264:
260:
258:
255:
254:
251:Channel type
250:
247:
246:
243:
241:
237:
227:
222:Acquired type
219:
206:
204:
200:
195:
193:
189:
185:
181:
176:
174:
170:
165:
163:
159:
155:
151:
147:
143:
139:
130:
126:
123:
119:
117:
116:Complications
113:
110:
106:
102:
98:
94:
92:
88:
85:
81:
77:
74:
72:
68:
65:
61:
57:
53:
48:
44:
39:
36:Channelopathy
34:
19:
3286:Transcytosis
3266:Phagocytosis
3099:ion channels
3096:
3076:
3049:
3026:
2996:
2982:
2958:
2931:
2917:
2890:
2876:
2862:
2848:
2829:
2810:
2779:
2765:
2741:
2727:
2700:
2666:
2652:
2638:
2624:
2605:
2591:
2577:
2563:
2523:
2517:
2511:
2497:
2491:
2449:
2430:
2416:
2387:
2368:
2344:
2301:
2282:
2276:Ligand gated
2257:
2238:
2219:
2195:
2171:
2146:
2032:Hyperthyroid
1893:Hyperkalemic
1813:
1789:
1775:
1769:X-linked MTM
1761:
1747:
1708:
1559:
1530:Diseases of
1477:
1463:
1445:
1391:
1387:
1379:Bibliography
1335:
1331:
1321:
1278:
1274:
1263:
1222:
1218:
1208:
1165:
1161:
1115:
1111:
1105:
1072:
1068:
1058:
1028:(1): 73–77.
1025:
1021:
1014:
969:
965:
959:
913:
909:
895:
858:
854:
844:
803:
799:
793:
756:
752:
742:
707:
703:
648:
629:
610:
395:
367:fibromyalgia
233:
225:
217:
214:Genetic type
203:synaptopathy
196:
177:
166:
158:ion channels
137:
136:
122:Sudden death
3276:Potocytosis
3271:Pinocytosis
3248:Endocytosis
2910:TRP channel
2014:Hypothyroid
1881:Hypokalemic
1763:PTP disease
1063:Hunter JV,
710:(1): 1–18.
673:(ion pumps)
142:ion channel
3296:Exocytosis
3219:Antiporter
3097:See also:
1925:(ion pump)
1886:Thyrotoxic
1802:Zaspopathy
1710:dystrophin
1674:Congenital
1561:autoimmune
678:References
420:main type
248:Condition
84:Cardiology
3214:Symporter
3209:Uniporter
2034:myopathy
2016:myopathy
1352:1552-4876
1295:0896-6273
1255:122401141
1239:1474-7766
1182:1471-0080
1097:207103822
1069:Neurology
467:Aquaporin
156:encoding
150:inherited
71:Specialty
3319:Category
3191:Carriers
3186:Channels
3168:(or non-
2951:Connexin
1828:Myotonia
1721:Duchenne
1716:Becker's
1679:Fukuyama
1641:Myotonic
1594:Myopathy
1416:43821573
1408:22926674
1368:24534275
1360:24888723
1313:30146301
1247:30996034
1200:19339978
1140:40441842
1132:12644745
1089:19153369
1050:52799681
1042:25420144
1006:34161264
940:30146301
887:22348792
828:11805845
785:27242528
734:24578711
665:See also
640:myotonia
613:channels
594:, type1
572:Tinnitus
489:various
360:various
199:synaptic
162:mutation
146:proteins
105:seizures
91:Symptoms
3239:Cytosis
3181:Osmosis
2381:GEFS+ 1
2357:GEFS+ 2
2240:CACNA1S
2221:CACNA1F
2197:CACNA1C
2173:CACNA1A
2089:General
1954:Muscle
1684:Ullrich
1452:D053447
1304:6226006
1191:2742554
1065:Moss AJ
997:8237684
974:Bibcode
931:6226006
878:3310736
836:4419017
808:Bibcode
776:4861771
759:: 121.
725:3935107
582:Seizure
279:(CPVT)
97:Syncope
2933:TRPML1
2892:CLCNKB
2781:KCNJ18
2767:KCNJ11
2525:SCNN1G
2519:SCNN1B
2513:SCNN1A
2499:SCNN1G
2493:SCNN1B
2259:CACNB2
2232:CSNB2A
1937:ATP2A1
1538:, and
1532:muscle
1464:VIDEO
1414:
1406:
1366:
1358:
1350:
1311:
1301:
1293:
1275:Neuron
1253:
1245:
1237:
1198:
1188:
1180:
1138:
1130:
1095:
1087:
1048:
1040:
1004:
994:
960:ATP1A3
938:
928:
910:Neuron
885:
875:
861:: 23.
834:
826:
800:Nature
783:
773:
732:
722:
659:ATP1A3
521:ATP1A3
236:Kir4.1
209:Causes
128:Causes
3069:Porin
2925:FSGS2
2919:TRPC6
2878:BEST1
2864:CLCN7
2850:CLCN5
2831:CLCN1
2773:TNDM3
2743:KCNJ2
2729:KCNJ1
2708:BFNS1
2702:KCNQ2
2668:KCNQ1
2654:KCNH2
2640:KCNE3
2626:KCNE2
2607:KCNE1
2593:KCNC3
2579:KCNA5
2565:KCNA1
2451:SCN9A
2432:SCN5A
2418:SCN4B
2389:SCN4A
2370:SCN1B
2346:SCN1A
2314:ARVD2
2309:CPVT1
1995:MNGIE
1980:MERRF
1975:MELAS
1902:Other
1412:S2CID
1364:S2CID
1251:S2CID
1136:S2CID
1093:S2CID
1046:S2CID
832:S2CID
655:SCN3A
617:pumps
611:Both
599:KCNH1
555:KCNH1
518:SCN3A
230:Types
154:genes
3078:AQP2
3051:GJB6
3032:GJB4
3028:GJB3
2998:GJB2
2984:GJB1
2960:GJA1
2812:CFTR
2303:RYR2
2284:RYR1
1608:DAPC
1447:MeSH
1404:PMID
1356:PMID
1348:ISSN
1336:166C
1309:PMID
1291:ISSN
1243:PMID
1235:ISSN
1196:PMID
1178:ISSN
1128:PMID
1085:PMID
1038:PMID
1002:PMID
936:PMID
883:PMID
824:PMID
781:PMID
730:PMID
615:and
190:and
1990:PEO
1985:KSS
1396:doi
1340:doi
1299:PMC
1283:doi
1227:doi
1186:PMC
1170:doi
1120:doi
1077:doi
1030:doi
992:PMC
982:doi
970:118
926:PMC
918:doi
873:PMC
863:doi
816:doi
804:415
771:PMC
761:doi
720:PMC
712:doi
644:EMG
498:(a
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1701:XR
1656:AR
1618:AD
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