Results 21 to 30 of about 138,611 (238)
Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement. [PDF]
, 2014 IntroductionAndersen-Tawil syndrome (ATS) is a potassium channelopathy affecting cardiac and skeletal muscle. Periodic paralysis is a presenting symptom in some patients, whereas, in others, symptomatic arrhythmias or prolongation of QT in ...
Bieganowska, Katarzyna +11 more
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Andersen's syndrome: A distinct periodic paralysis [PDF]
Annals of Neurology, 1997 AbstractA previous study of 4 patients defined Andersen's syndrome (AS) as a triad of potassium‐sensitive periodic paralysis, ventricular dysrhythmias, and dysmorphic features. AS appears to be distinct in terms of its genetic defect from the α‐subunit of skeletal muscle sodium channel and the cardiac potassium channel responsible for most long QT ...
V. Sansone +11 more
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Journal of Arrhythmia, 2012 Andersen-Tawil syndrome (ATS), also known as long QT syndrome type 7, is a rare autosomal dominant disease caused by a KCNJ2 mutation. The characteristic triad of ATS is periodic paralysis, dysmorphic features, and ventricular arrhythmia.
Chizuko A. Kamiya +10 more
doaj +1 more source
Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]
, 2013 Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui +2 more
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Delayed diagnosed atypical case of Andersen-Tawil syndrome
Neurology International, 2019 Andersen-Tawil syndrome (ATS) is characterized by a triad of periodic paralysis, cardiac arrhythmias and distinctive dysmorphic features. Due to its rarity and high degree of clinical and phenotypic variability, a diagnosis of ATS can be very perplexing ...
Ahmet Z. Burakgazi
doaj +1 more source
Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities [PDF]
Arquivos de Neuro-Psiquiatria, 2006 Andersen syndrome (AS) is a rare disease characterized by the presence of periodic paralysis (PP), cardiac arrhythmia and dysmorphic abnormalities. We report herein the first Brazilian patient presenting AS who also had obesity, obstructive sleep apnea ...
Célia H. Tengan +5 more
doaj +1 more source
Risk factors for obstructive sleep apnea syndrome in children: state of the art [PDF]
, 2019 The obstructive sleep apnea syndrome (OSAS) represents only part of a large group of pathologies of variable entity called respiratory sleep disorders (RSD) which include simple snoring and increased upper airway resistance syndrome (UARS).
Bellini, Chiara +16 more
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Child Neurology: Andersen-Tawil syndrome [PDF]
Neurology, 2020 Two images of patients in the article “Child Neurology: Andersen-Tawil syndrome” by Almuqbil and Srour,1 published online March 16, 2015, have been removed because the patients requested that their consent for publication be withdrawn. The removal of the images does not invalidate the paper because an extensive verbal description of the patients was ...
openaire +2 more sources
The effect of very low-calorie diets on renal and hepatic outcomes : a systematic review [PDF]
, 2013 Peer reviewedPublisher ...
Broom, J +3 more
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The Exercise Test in Andersen Syndrome [PDF]
Archives of Neurology, 1999 Andersen syndrome is a rare form of periodic paralysis (PP) associated with dysmorphic features and potentially fatal cardiac dysrhythmias. To date, no electrodiagnostic abnormalities have been reported that can be used to confirm the presence of PP in this condition.To determine if the exercise test could be used to confirm the diagnosis of PP in ...
J S, Katz +4 more
openaire +2 more sources