Muscle weakness, palpitations and a small chin: The Andersen?Tawil syndrome

Practical Neurology

Volumn 10, Issue 4, 2010, Pages 227-231

  Rajakulendran, S ^a   Tan, S V ^b   Hanna, M G ^b,c  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^c MEDICAL RESEARCH COUNCIL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANDERSEN SYNDROME; ARTICLE; CASE REPORT; CHANNELOPATHY; CONGENITAL MALFORMATION; FEMALE; GENETICS; HEART ARRHYTHMIA; HUMAN; MANDIBLE; MIDDLE AGED; MUSCLE WEAKNESS; MUSCULOSKELETAL SYSTEM MALFORMATION; PATHOPHYSIOLOGY; PERIODIC PARALYSIS;

ANDERSEN SYNDROME; ARRHYTHMIAS, CARDIAC; CHANNELOPATHIES; FEMALE; HUMANS; MANDIBLE; MIDDLE AGED; MUSCLE WEAKNESS; MUSCULOSKELETAL ABNORMALITIES; PARALYSES, FAMILIAL PERIODIC;

EID: 77955756018     PISSN: 14747758     EISSN: 14747766     Source Type: Journal    
DOI: 10.1136/jnnp.2010.217794     Document Type: Article

References (6)

1. Sansone V, Griggs RC, Meola G, et al. Andersen's syndrome: a distinct periodic paralysis. Ann Neurol 1997;42:305-12.
2. Sansone V, Tawil R. Management and treatment of Andersen-Tawil syndrome (ATS). Neurotherapeutics 2007;4:233-7.
3. Venance SL, Cannon SC, Fialho D, et al. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain 2006;129(Pt 1):8-17.
4. Tristani-Firouzi M, Jensen JL, Donaldson MR, et al. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest 2002;110:381-8.
5. Plaster NM, Tawil R, Tristani-Firouzi M, et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 2001;105:511-19.
6. Davies NP, Imbrici P, Fialho D, et al. Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology 2005;65:1083-9