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Short-term response to phenytoin sodium in Andersen-Tawil syndrome-1 with a cardiac-dominant phenotype.
Rai MK, Pai R, Prabhu MA, Pasha SW, Kedambadi RC, Kamath P, Augustine AJ, Bhavani GS, Girisha KM. Rai MK, et al. Pacing Clin Electrophysiol. 2019 Feb;42(2):201-207. doi: 10.1111/pace.13569. Epub 2018 Dec 19. Pacing Clin Electrophysiol. 2019. PMID: 30516834
BACKGROUND: Andersen-Tawil syndrome (ATS) is a rare familial periodic paralysis that typically also affects the heart and skeletal system. ...Heterozygous mutation with c.431G > C (p.G144A) in exon 2 of KCNJ2 gene was observed in all patients. Chara …
BACKGROUND: Andersen-Tawil syndrome (ATS) is a rare familial periodic paralysis that typically also affects the heart a …
Elementary, my dear Dr. Allen: the case of barium toxicity and Pa Ping.
Bowen LN, Subramony SH, Cheng J, Wu SS, Okun MS. Bowen LN, et al. Neurology. 2010 May 11;74(19):1546-9. doi: 10.1212/WNL.0b013e3181e222ee. Neurology. 2010. PMID: 20458073 Review.
Huang, with the National Central University College of Medicine, noticed a striking similarity between Pa Ping and familial periodic paralysis in 12 patients and reported 2 patients with Pa Ping treated with potassium citrate who experienced a reversal of the …
Huang, with the National Central University College of Medicine, noticed a striking similarity between Pa Ping and familial period …
Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia.
Ai T, Fujiwara Y, Tsuji K, Otani H, Nakano S, Kubo Y, Horie M. Ai T, et al. Circulation. 2002 Jun 4;105(22):2592-4. doi: 10.1161/01.cir.0000019906.35135.a3. Circulation. 2002. PMID: 12045162
CONCLUSIONS: T192, which is located in the phosphatidylinositol-4,5-bisphosphate binding site and also the region necessary for Kir2.1 multimerization, is a highly conserved amino acid residue among inward-rectifier channels. We suggest that the T192A mutation resulted in the …
CONCLUSIONS: T192, which is located in the phosphatidylinositol-4,5-bisphosphate binding site and also the region necessary for Kir2.1 multi …
Contribution of the Na(+)-K+ pump to membrane potential in familial periodic paralysis.
Martin AR, Levinson SR. Martin AR, et al. Muscle Nerve. 1985 Jun;8(5):359-62. doi: 10.1002/mus.880080503. Muscle Nerve. 1985. PMID: 16758580
The possibility has been raised that in familial periodic paralysis, the relatively large depolarization of the muscle fiber membrane seen during periods of paralysis might be attributable to a reduction in activity of the electrogenic Na(+)-K+ pump. The theo …
The possibility has been raised that in familial periodic paralysis, the relatively large depolarization of the muscle …