adults. The mutation causing this disorder is autosomal dominant on the SCN4A gene with linkage to the sodium channel expressed in muscle. The mutation...
10 KB (1,098 words) - 03:27, 27 July 2024
during pregnancy. Myotonia could be caused by genetic mutations in the SCN4A gene that encodes the skeletal muscle sodium channel subtype 4 (Nav1.4)...
16 KB (1,734 words) - 19:47, 25 July 2024
channels cannot open normally.[citation needed] In patients with mutations in SCN4A or CACNA1S, therefore, the channel has a reduced excitability and signals...
17 KB (2,108 words) - 02:19, 22 July 2024
potassium-aggravated myotonias) is caused by mutations in a sodium channel, SCN4A. The phenotype of patients with these mutations is indicated in Table 1...
28 KB (2,477 words) - 21:27, 26 July 2024
gene but rather in the alpha-subunit of the voltage gated sodium channel (SCN4A). Like chloride channel mutations, patients with sodium channel mutations...
26 KB (3,125 words) - 04:49, 26 July 2024
S6K: Ribosomal protein S6-kinase (17q23.1) FTSJ3: FtsJ homolog 3 (17q23.3) SCN4A: Voltage-Gated Sodium Channel Subunit Alpha Nav1.4 (17q23.3) GALK1: galactokinase...
25 KB (1,879 words) - 21:35, 24 July 2024
mutation in gene located at 17q23 that regulates the production of protein SCN4A. SCN4A is an important component of sodium channels in skeletal muscles. During...
47 KB (4,867 words) - 21:47, 19 July 2024
muscle weakness.[citation needed] Mutations in the SCN4A gene cause potassium-aggravated myotonia. The SCN4A gene provides instructions for making a protein...
4 KB (363 words) - 20:24, 28 October 2023
neurons and cardiac myocytes epilepsy, pain, brain malformations Nav1.4 SCN4A Skeletal muscle hyperkalemic periodic paralysis, paramyotonia congenita...
34 KB (3,587 words) - 12:35, 24 June 2024
Potassium-aggravated myotonia, paramyotonia congenita (Sodium channelopathy, SCN4A gene) Calf muscle /general Muscle hypertrophy. Brody disease (formerly,...
69 KB (4,051 words) - 18:14, 10 July 2024
neurons and cardiac myocytes epilepsy, pain, brain malformations Nav1.4 SCN4A Skeletal muscle hyperkalemic periodic paralysis, paramyotonia congenita...
51 KB (5,597 words) - 08:29, 23 July 2024
followed by paralysis. The mutation which causes this disorder is dominant on SCN4A with linkage to the sodium channel expressed in muscle. The mutation causes...
9 KB (1,133 words) - 04:07, 4 January 2023
paralysis and paramyotonia congenita caused by a de novo mutation in the SCN4A gene". Neurology Asia. 16 (2): 163–6. Kim, JB; Chung, KW (Dec 2009). "Novel...
10 KB (1,263 words) - 21:29, 26 July 2024
(IKCa1, SK4, KCNN4) KCa5.1 (Slo3, KCNU1) NALCN SCN1A; SCN2A; SCN2A2; SCN3A; SCN4A; SCN5A; SCN7A; SCN8A; SCN9A; SCN10A; SCN11A SLC9A10; SLC9A11 CNGA1; CNGA2;...
19 KB (1,692 words) - 03:53, 29 November 2023
O60939 14372 SCN3A HGNC:10590 Q9NY46 14373 SCN3B HGNC:20665 Q9NY72 14374 SCN4A HGNC:10591 P35499 14375 SCN4B HGNC:10592 Q8IWT1 14376 SCN5A HGNC:10593 Q14524...
282 KB (17 words) - 07:55, 20 June 2024
syndrome; 606762; GLUD1 Hyperkalemic periodic paralysis, type 2; 613345; SCN4A Hyperkeratotic cutaneous capillary-venous malformations associated with...
234 KB (18,877 words) - 15:43, 9 May 2024
and episodic disorders. In 1991, he discovered that a mutation in a gene (SCN4A) that coded for a muscle cell sodium channel caused the patient's condition...
13 KB (1,413 words) - 15:28, 6 March 2024
375–391. doi:10.1085/jgp.74.3.375. ISSN 0022-1295. PMC 2228523. PMID 479827. "SCN4A sodium voltage-gated channel alpha subunit 4 [Homo sapiens (human)] - Gene...
8 KB (986 words) - 23:05, 2 December 2023
voltage gated sodium channel subtypes (Nav1.1/SCN1A, Nav1.2/SCN2A, Nav1.4/SCN4A, Nav1.5/SCN5A, and Nav1.8/SCN10A) (Bosmans 2006) harv error: no target:...
6 KB (692 words) - 20:04, 19 August 2021