Andersen-Tawil syndrome historical perspective: Difference between revisions
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*In 1994, Tawil made a significant contributions to the understanding that Andersen's syndrome is different from other long QT syndrome demonstrating lack of genetic linkage.<ref name="pmid80805082">{{cite journal| author=Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C et al.| title=Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. | journal=Ann Neurol | year= 1994 | volume= 35 | issue= 3 | pages= 326-30 | pmid=8080508 | doi=10.1002/ana.410350313 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8080508 }}</ref> | *In 1994, Tawil made a significant contributions to the understanding that Andersen's syndrome is different from other long QT syndrome demonstrating lack of genetic linkage.<ref name="pmid80805082">{{cite journal| author=Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C et al.| title=Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. | journal=Ann Neurol | year= 1994 | volume= 35 | issue= 3 | pages= 326-30 | pmid=8080508 | doi=10.1002/ana.410350313 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8080508 }}</ref> | ||
* In 2002, Andelfinger et al identified missense mutation in KCNJ2 gene were first implicated in the pathogenesis of Andersen-Tawil syndrome. | * In 2002, Andelfinger et al identified missense mutation in KCNJ2 gene were first implicated in the pathogenesis of Andersen-Tawil syndrome. | ||
==References== | ==References== | ||
Revision as of 16:51, 28 January 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
It is named for Ellen Andersen[1]and R. Tawil.[2]
Historical Perspective
Discovery
- There is limited information about the historical perspective of [disease name].
OR
- [Disease name] was first discovered by [name of scientist], a [nationality + occupation], in [year]/during/following [event].
- The association between [important risk factor/cause] and [disease name] was made in/during [year/event].
- In 1971, Ellen Andersen et al was the first to report the symptoms of the syndrome which includes short stature, hypertelorism, broad nasal root, mandibular hypoplasia, scaphocephaly, and clinodactyly in an 8 year old boy.
- In 1976, Stubbs described bidirectional ventricular tachycardia in a women.
- In 1977, Sansone et al reported the symptoms of periodic paralysis, ventricular arrhythmia in a patient.
- In 1994, Tawil gave the name Andersen syndrome for a clinical triad which consists of periodic paralysis, ventricular ectopy, and dysmorphic features.
- In 1994, Tawil made a significant contributions to the understanding that Andersen's syndrome is different from other long QT syndrome demonstrating lack of genetic linkage.[3]
- In 2002, Andelfinger et al identified missense mutation in KCNJ2 gene were first implicated in the pathogenesis of Andersen-Tawil syndrome.
References
- ↑ Andersen ED, Krasilnikoff PA, Overvad H (1971). "Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?". Acta paediatrica Scandinavica. 60 (5): 559–64. PMID 4106724.
- ↑ Tawil R, Ptacek LJ, Pavlakis SG; et al. (1994). "Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features". Ann. Neurol. 35 (3): 326–30. doi:10.1002/ana.410350313. PMID 8080508.
- ↑ Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C; et al. (1994). "Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features". Ann Neurol. 35 (3): 326–30. doi:10.1002/ana.410350313. PMID 8080508.