Results 31 to 40 of about 20,847 (184)
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
openaire +2 more sources
A case report of Andersen-Tawil syndrome misdiagnosed with myodystrophy
Frontiers in Neurology, 2023 Andersen-Tawil syndrome (ATS) is a rare periodic paralysis caused by the KCNJ2 gene mutation. Here, we report on an ATS patient misdiagnosed with myodystrophy.
Xiuqin Zhao, Hengbing Zu, Kai Yao
doaj +1 more source
Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?
European Journal of Medical Genetics, 2022 Andersen-Tawil syndrome (ATS) and Noonan syndrome (NS) are both autosomal dominantly inherited disorders that share anomalies in the same body systems, i.e. cardiovascular system, skeleton, growth, and face morphology. Here we report a patient meeting clinical diagnostic criteria for NS in whom no variant in one of the genes known to cause NS was found
Werf -'t Lam, A.S. van der +6 more
openaire +4 more sources
Case Reports in Neurology, 2021 We present a case report of a 13-year-old girl with Andersen-Tawil Syndrome (ATS), a rare genetic disorder which is characterized by dysmorphic features, ventricular arrhythmias, and frequent episodes of muscle paralysis that interfere with daily ...
Nina Žakelj +2 more
doaj +1 more source
Frontiers in Cell and Developmental Biology, 2022 Potassium (K+) homeostasis is tightly regulated for optimal cell and organismal health. Failure to control potassium balance results in disease, including cardiac arrythmias and developmental disorders.
Natalie A. Hager +3 more
doaj +1 more source
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
Unlocking the Secrets of Andersen–Tawil Syndrome: The Role of Next-Generation Sequencing in a Family With Long QT Syndrome [PDF]
Cardiology Research and PracticeMansoor Namazi +5 more
doaj +2 more sources
Child Neurology: Andersen-Tawil syndrome [PDF]
Neurology, 2015 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.
Mohammed, Almuqbil, Myriam, Srour
openaire +2 more sources
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