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Skeletal muscle Ca(V)1.1 channelopathies.
Flucher BE. Flucher BE. Pflugers Arch. 2020 Jul;472(7):739-754. doi: 10.1007/s00424-020-02368-3. Epub 2020 Mar 28. Pflugers Arch. 2020. PMID: 32222817 Free PMC article. Review.
Ca(V)1.1 is specifically expressed in skeletal muscle where it functions as voltage sensor of skeletal muscle excitation-contraction (EC) coupling independently of its functions as L-type calcium channel. ...To date, four types of muscle diseases are known th …
Ca(V)1.1 is specifically expressed in skeletal muscle where it functions as voltage sensor of skeletal muscle excitation-contr …
A novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review.
Zhou W, Zhao P, Gao J, Zhang Y. Zhou W, et al. BMC Pediatr. 2023 Oct 2;23(1):500. doi: 10.1186/s12887-023-04326-1. BMC Pediatr. 2023. PMID: 37784084 Free PMC article. Review.
BACKGROUND: The CACNA1S gene encodes the alpha 1 S-subunit of the voltage-gated calcium channel, which is primarily expressed in the skeletal muscle cells. Pathogenic variants of CACNA1S can cause hypokalemic periodic paralysis (HypoPP), malignant hype …
BACKGROUND: The CACNA1S gene encodes the alpha 1 S-subunit of the voltage-gated calcium channel, which is primarily expressed in the …
Inherited ion channel disorders.
Surtees R. Surtees R. Eur J Pediatr. 2000 Dec;159 Suppl 3:S199-203. doi: 10.1007/pl00014403. Eur J Pediatr. 2000. PMID: 11216900 Review.
Skeletal muscle calcium channelopathies can cause hypokalaemic periodic paralysis, malignant hyperthermia and central core disease. ...Neuronal potassium channelopathies can cause familial benign neonatal convulsions and episodic ataxia type 1. …
Skeletal muscle calcium channelopathies can cause hypokalaemic periodic paralysis, malignant hyperthermia and central c …
Neurological potassium channelopathies.
Benatar M. Benatar M. QJM. 2000 Dec;93(12):787-97. doi: 10.1093/qjmed/93.12.787. QJM. 2000. PMID: 11110585 Review.
Potassium channel dysfunction has been implicated in a variety of genetic and acquired neurological disorders that are collectively referred to as the potassium channelopathies. These include acquired neuromyotonia, episodic ataxia type-1, hereditary deafness syndro …
Potassium channel dysfunction has been implicated in a variety of genetic and acquired neurological disorders that are collectively referred …
Periodic paralysis: understanding channelopathies.
Lehmann-Horn F, Jurkat-Rott K, Rüdel R. Lehmann-Horn F, et al. Curr Neurol Neurosci Rep. 2002 Jan;2(1):61-9. doi: 10.1007/s11910-002-0055-9. Curr Neurol Neurosci Rep. 2002. PMID: 11898585 Review.
Familial periodic paralyses are typical channelopathies (i.e., caused by functional disturbances of ion channel proteins). ...The clinical symptoms can be caused by mutations in genes coding for ion channels that mediate different functions for maintaining the resting pote …
Familial periodic paralyses are typical channelopathies (i.e., caused by functional disturbances of ion channel proteins). ...The cli …
Disorders of membrane channels or channelopathies.
Celesia GG. Celesia GG. Clin Neurophysiol. 2001 Jan;112(1):2-18. doi: 10.1016/s1388-2457(00)00496-x. Clin Neurophysiol. 2001. PMID: 11137655 Review.
Each subunit has a specific function and is encoded by a different gene. The following inherited channelopathies are described. (1) Sodium channelopathies: familial generalized epilepsy with febrile seizures plus, hyperkalemic periodic paralysis, paramyotonia …
Each subunit has a specific function and is encoded by a different gene. The following inherited channelopathies are described. (1) S …
Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels.
Striessnig J, Bolz HJ, Koschak A. Striessnig J, et al. Pflugers Arch. 2010 Jul;460(2):361-74. doi: 10.1007/s00424-010-0800-x. Epub 2010 Mar 7. Pflugers Arch. 2010. PMID: 20213496 Free PMC article. Review.
This is achieved by mediating Ca2+ ion influx or by direct conformational coupling to intracellular Ca2+ release channels. The family of Cav1 channels, also termed L-type Ca2+ channels (LTCCs), is uniquely sensitive to organic Ca2+ channel blockers and expressed in many el …
This is achieved by mediating Ca2+ ion influx or by direct conformational coupling to intracellular Ca2+ release channels. The family of Cav …
L-type Ca2+ channels in Ca2+ channelopathies.
Striessnig J, Hoda JC, Koschak A, Zaghetto F, Müllner C, Sinnegger-Brauns MJ, Wild C, Watschinger K, Trockenbacher A, Pelster G. Striessnig J, et al. Biochem Biophys Res Commun. 2004 Oct 1;322(4):1341-6. doi: 10.1016/j.bbrc.2004.08.039. Biochem Biophys Res Commun. 2004. PMID: 15336981 Review.
Voltage-gated L-type Ca2+ channels (LTCCs) mediate depolarization-induced Ca2+ entry in electrically excitable cells, including muscle cells, neurons, and endocrine and sensory cells. ...LTCC dysfunction can result from structural aberrations within pore-forming alpha1 sub …
Voltage-gated L-type Ca2+ channels (LTCCs) mediate depolarization-induced Ca2+ entry in electrically excitable cells, including muscl …
When muscle Ca(2+) channels carry monovalent cations through gating pores: insights into the pathophysiology of type 1 hypokalaemic periodic paralysis.
Allard B, Fuster C. Allard B, et al. J Physiol. 2018 Jun;596(11):2019-2027. doi: 10.1113/JP274955. Epub 2018 Apr 15. J Physiol. 2018. PMID: 29572832 Free PMC article. Review.
Patients suffering from type 1 hypokalaemic periodic paralysis (HypoPP1) experience attacks of muscle paralysis associated with hypokalaemia. ...In mouse fibres transfected with HypoPP1 mutated channels, the elevated resting current was f …
Patients suffering from type 1 hypokalaemic periodic paralysis (HypoPP1) experience attacks of muscle …
Abnormal intracellular ca(2+)homeostasis and disease.
Missiaen L, Robberecht W, van den Bosch L, Callewaert G, Parys JB, Wuytack F, Raeymaekers L, Nilius B, Eggermont J, De Smedt H. Missiaen L, et al. Cell Calcium. 2000 Jul;28(1):1-21. doi: 10.1054/ceca.2000.0131. Cell Calcium. 2000. PMID: 10942700 Review.
Skeletal-muscle pathology can be caused by mutations in ryanodine receptors (malignant hyperthermia, porcine stress syndrome, central-core disease), dihydropyridine receptors (familial hypokalemic periodic paralysis, malignant hyperthermia, muscular dysgenesi …
Skeletal-muscle pathology can be caused by mutations in ryanodine receptors (malignant hyperthermia, porcine stress syndrome, central-core d …
21 results