Child neurology: Andersen-Tawil syndrome.
نویسندگان
چکیده
Andersen-Tawil syndrome (ATS) is one of the periodic paralyses. This autosomal dominant disorder was initially named after Andersen, who in 1971 reported the case of a young boy presenting with intermittent muscle weakness, ventricular arrhythmias, and other developmental abnormalities. It was subsequently renamed Andersen-Tawil syndrome following the additional work of Dr. Rabi Tawil. Periodic paralysis, cardiac arrhythmias, and dysmorphic features are now recognized as the 3 characteristic features in patients with ATS.
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متن کاملHypokalemic periodic paralysis, facial dysmorphism and ventricular arrhythmia (clinical triad of Andersen-Tawil syndrome).
Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (short stature, scoliosis, clinodactyly, hypertelorism, small or prominent low set ears, micrognathia and broad forehead). We report a case of hypokalemic periodic paralysis with dysmorphic facial features and ventricular arrhythmia resembling A...
متن کاملElectrocardiogram in Andersen-Tawil Syndrome. New Electrocardiographic Criteria for Diagnosis of Type-1 Andersen-Tawil Syndrome
Andersen - Tawil syndrome (ATS) is an autosomal - dominant or sporadic disorder characterized by ventricular arrhythmias, periodic paralysis, and distinctive facial and skeletal dysmorphism. Mutations in KCNJ2, which encodes the α-subunit of the potassium channel Kir2.1, were identified in patients with ATS. This genotype has been designated as type-1 ATS (ATS1). KCNJ2 mutations are detectable ...
متن کاملPropafenone is not effective for severe ventricular arrhythmias in Andersen-Tawil syndrome
Corresponding author: Piotr Bienias Department of Internal Medicine and Cardiology Medical University of Warsaw 4 Lindleya St 02-005 Warsaw, Poland Phone: +48 604 405 365 E-mail: [email protected] 1 Department of Internal Medicine and Cardiology, Medical University of Warsaw, Warsaw, Poland 2 Department of Neurology, Medical University of Warsaw, Warsaw, Poland 3 Department of Pediatric Cardiology...
متن کاملAndersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.
OBJECTIVE To evaluate clinical, genetic, and electrophysiologic features of patients with Andersen-Tawil syndrome (ATS) in the United Kingdom. METHODS Clinical and neurophysiologic evaluation was conducted of 11 families suspected to have ATS. Molecular genetic analysis of each proband was performed by direct DNA sequencing of the entire coding region of KCNJ2. Control samples were screened b...
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عنوان ژورنال:
- Neurology
دوره 84 11 شماره
صفحات -
تاریخ انتشار 2015