familial periodic paralysis

Literature (6)

Literature for DOID 1029: familial periodic paralysis

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic periodic paralysis., Mi W,Rybalchenko V,Cannon SC, J Gen Physiol. August 1, 2014; 144(2):1540-7748.
Channelopathies: ion channel defects linked to heritable clinical disorders., Felix R, J Med Genet. October 1, 2000; 37(10):1468-6244.
Stac3 enhances expression of human CaV1.1 in Xenopus oocytes and reveals gating pore currents in HypoPP mutant channels., Wu F,Quinonez M,DiFranco M,Cannon SC, J Gen Physiol. March 5, 2018; 150(3):1540-7748.
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms., Sampedro Castañeda M,Zanoteli E,Scalco RS,Scaramuzzi V,Marques Caldas V,Conti Reed U,da Silva AMS,O'Callaghan B,Phadke R,Bugiardini E,Sud R,McCall S,Hanna MG,Poulsen H,Männikkö R,Matthews E, Brain. December 1, 2018; 141(12):1460-2156.
Evaluation of mutant muscle Ca2+ channel properties using two different expression systems., Allard B, J Gen Physiol. July 2, 2018; 150(7):1540-7748.
BK channel openers NS1619 and NS11021 reverse hydrogen peroxide-induced membrane potential changes in skeletal muscle., Coskun C,Buyuknacar HS,Cicek F,Gunay I, J Recept Signal Transduct Res. October 1, 2020; 40(5):1532-4281.

Channelopathies: ion channel defects linked to heritable clinical disorders., Felix R, J Med Genet. October 1, 2000; 37(10):1468-6244.

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms., Sampedro Castañeda M,Zanoteli E,Scalco RS,Scaramuzzi V,Marques Caldas V,Conti Reed U,da Silva AMS,O'Callaghan B,Phadke R,Bugiardini E,Sud R,McCall S,Hanna MG,Poulsen H,Männikkö R,Matthews E, Brain. December 1, 2018; 141(12):1460-2156.

BK channel openers NS1619 and NS11021 reverse hydrogen peroxide-induced membrane potential changes in skeletal muscle., Coskun C,Buyuknacar HS,Cicek F,Gunay I, J Recept Signal Transduct Res. October 1, 2020; 40(5):1532-4281.