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2006 3
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Page 1
Periodic paralysis.
Fialho D, Griggs RC, Matthews E. Fialho D, et al. Handb Clin Neurol. 2018;148:505-520. doi: 10.1016/B978-0-444-64076-5.00032-6. Handb Clin Neurol. 2018. PMID: 29478596 Review.
Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.
Vivekanandam V, Männikkö R, Skorupinska I, Germain L, Gray B, Wedderburn S, Kozyra D, Sud R, James N, Holmes S, Savvatis K, Fialho D, Merve A, Pattni J, Farrugia M, Behr ER, Marini-Bettolo C, Hanna MG, Matthews E. Vivekanandam V, et al. Brain. 2022 Jun 30;145(6):2108-2120. doi: 10.1093/brain/awab445. Brain. 2022. PMID: 34919635
Andersen-Tawil syndrome is a neurological channelopathy caused by mutations in the KCNJ2 gene that encodes the ubiquitously expressed Kir2.1 potassium channel. ...This is required, given the risk of cardiac arrhythmias among asymptomatic individuals, and a si …
Andersen-Tawil syndrome is a neurological channelopathy caused by mutations in the KCNJ2 gene that encodes the ubiquito …
Coincidence of Andersen-Tawil syndrome and Marfan syndrome: A case report.
Krych M, Ponińska J, Bilińska ZT, Płoski R, Biernacka EK. Krych M, et al. Ann Noninvasive Electrocardiol. 2019 May;24(3):e12624. doi: 10.1111/anec.12624. Epub 2019 Jan 23. Ann Noninvasive Electrocardiol. 2019. PMID: 30672637 Free PMC article. Review.
We report on a 44-year-old woman with coincidence of two genetic disorders: Andersen-Tawil syndrome and Marfan syndrome. In both, life-threatening arrhythmias could occur. ...Due to repolarization disorder in ECG and premature ventricular contractions in Holt …
We report on a 44-year-old woman with coincidence of two genetic disorders: Andersen-Tawil syndrome and Marfan syndrome …
Distinctive facial features in Andersen-Tawil syndrome: A three-dimensional stereophotogrammetric analysis.
Dolci C, Sansone VA, Gibelli D, Cappella A, Sforza C. Dolci C, et al. Am J Med Genet A. 2021 Mar;185(3):781-789. doi: 10.1002/ajmg.a.62040. Epub 2020 Dec 24. Am J Med Genet A. 2021. PMID: 33369085
Andersen-Tawil syndrome (ATS) is a rare potassium channelopathy causing periodic paralysis, cardiac arrhythmias, and dysmorphic features. ...
Andersen-Tawil syndrome (ATS) is a rare potassium channelopathy causing periodic paralysis, cardiac arrhythmias, and dy …
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.
Villar-Quiles RN, Sternberg D, Tredez G, Beatriz Romero N, Evangelista T, Lafôret P, Cintas P, Sole G, Sacconi S, Bendahhou S, Franques J, Cances C, Noury JB, Delmont E, Blondy P, Perrin L, Hezode M, Fournier E, Fontaine B, Stojkovic T, Vicart S. Villar-Quiles RN, et al. Eur J Neurol. 2022 Aug;29(8):2398-2411. doi: 10.1111/ene.15369. Epub 2022 May 4. Eur J Neurol. 2022. PMID: 35460302
BACKGROUND AND PURPOSE: Andersen-Tawil syndrome (ATS) is a skeletal muscle channelopathy caused by KCNJ2 mutations, characterized by a clinical triad of periodic paralysis, cardiac arrhythmias and dysmorphism. ...
BACKGROUND AND PURPOSE: Andersen-Tawil syndrome (ATS) is a skeletal muscle channelopathy caused by KCNJ2 mutations, cha …
Bioinformatics characterisation of the (mutated) proteins related to Andersen-Tawil syndrome.
Polanco C, Uversky VN, Márquez MF, Buhse T, Estrada MA, Huberman A. Polanco C, et al. Math Biosci Eng. 2019 Mar 22;16(4):2532-2548. doi: 10.3934/mbe.2019127. Math Biosci Eng. 2019. PMID: 31137226 Free article.
In the last two decades, a group of proteins whose mutations are associated with a disease manifested by episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities has been under constant study. This malady is known as …
In the last two decades, a group of proteins whose mutations are associated with a disease manifested by episodes of muscle weakness (period …
Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1.
Mazzanti A, Guz D, Trancuccio A, Pagan E, Kukavica D, Chargeishvili T, Olivetti N, Biernacka EK, Sacilotto L, Sarquella-Brugada G, Campuzano O, Nof E, Anastasakis A, Sansone VA, Jimenez-Jaimez J, Cruz F, Sánchez-Quiñones J, Hernandez-Afonso J, Fuentes ME, Średniawa B, Garoufi A, Andršová I, Izquierdo M, Marinov R, Danon A, Expósito-García V, Garcia-Fernandez A, Muñoz-Esparza C, Ortíz M, Zienciuk-Krajka A, Tavazzani E, Monteforte N, Bloise R, Marino M, Memmi M, Napolitano C, Zorio E, Monserrat L, Bagnardi V, Priori SG. Mazzanti A, et al. J Am Coll Cardiol. 2020 Apr 21;75(15):1772-1784. doi: 10.1016/j.jacc.2020.02.033. J Am Coll Cardiol. 2020. PMID: 32299589 Free article.
BACKGROUND: Andersen-Tawil Syndrome type 1 (ATS1) is a rare arrhythmogenic disorder, caused by loss-of-function mutations in the KCNJ2 gene. ...
BACKGROUND: Andersen-Tawil Syndrome type 1 (ATS1) is a rare arrhythmogenic disorder, caused by loss-of-function mutatio …
"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes.
Hamilton MJ, Suri M. Hamilton MJ, et al. Adv Genet. 2020;105:137-174. doi: 10.1016/bs.adgen.2020.03.002. Epub 2020 May 26. Adv Genet. 2020. PMID: 32560786 Review.
In this chapter, we review a distinct subgroup of rare potassium channelopathies whose presentations are instead suggestive of a developmental disorder, with features including intellectual disability, craniofacial dysmorphism or other physical anomalies. Known conditions within …
In this chapter, we review a distinct subgroup of rare potassium channelopathies whose presentations are instead suggestive of a development …
Catheter ablation of frequent monomorphic ventricular arrhythmias in Andersen-Tawil syndrome: case report and focused literature review.
Keegan R, Onetto L, Gregorietti F, Urruti R, Di Biase L. Keegan R, et al. J Interv Card Electrophysiol. 2023 Apr;66(3):729-736. doi: 10.1007/s10840-021-01077-w. Epub 2021 Oct 19. J Interv Card Electrophysiol. 2023. PMID: 34665385 Review.
BACKGROUND/PURPOSE: Andersen-Tawil syndrome type 1 is a rare autosomal dominant disease caused by a KCNJ2 gene mutation and clinically characterized by dysmorphic features, periodic muscular paralysis, and frequent ventricular arrhythmias (VAs). ...CONCLUSION …
BACKGROUND/PURPOSE: Andersen-Tawil syndrome type 1 is a rare autosomal dominant disease caused by a KCNJ2 gene mutation …
Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias - Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene.
Krych M, Biernacka EK, Ponińska J, Kukla P, Filipecki A, Gajda R, Hasdemir C, Antzelevitch C, Kosiec A, Szperl M, Płoski R, Trusz-Gluza M, Mizia-Stec K, Hoffman P. Krych M, et al. J Cardiol. 2017 Nov;70(5):504-510. doi: 10.1016/j.jjcc.2017.01.009. Epub 2017 Mar 21. J Cardiol. 2017. PMID: 28336205 Free PMC article.
BACKGROUND: Andersen-Tawil syndrome (ATS) is rare channelopathy caused by KCNJ2 mutation and probably KCNJ5. ...
BACKGROUND: Andersen-Tawil syndrome (ATS) is rare channelopathy caused by KCNJ2 mutation and probably KCNJ5. ...
34 results