Cargando…

Mind the Gap: Acetazolamide Prolonged Periods without Paralysis in a Girl with Andersen-Tawil Syndrome

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 activities and social engagement. After the introduct...

Descripción completa

Detalles Bibliográficos
Autores principales:	Žakelj, Nina, Osredkar, Damjan, Šuštar, Nataša
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	S. Karger AG 2021
Materias:	Single Case − General Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460927/ https://www.ncbi.nlm.nih.gov/pubmed/34720956 http://dx.doi.org/10.1159/000517899

Ejemplares similares

Andersen-Tawil Syndrome
por: Smith, Andrew H, et al.
Publicado: (2006)

Thyrotoxic Periodic Paralysis With Features of Andersen-Tawil Syndrome: A Case Report and Literature Review
por: Iskander, Beshoy, et al.
Publicado: (2020)

Electrocardiogram in Andersen-Tawil Syndrome. New Electrocardiographic Criteria for Diagnosis of Type-1 Andersen-Tawil Syndrome
por: Kukla, Piotr, et al.
Publicado: (2014)

Ventricular Tachyarrhythmias in a Patient with Andersen-Tawil Syndrome
por: Pyo, Jung Yoon, et al.
Publicado: (2013)

Recurrent syncope in the Andersen Tawil syndrome – Cardiac or neurological?
por: Fryer, Michael David, et al.
Publicado: (2015)

Delayed diagnosed atypical case of Andersen-Tawil syndrome
por: Burakgazi, Ahmet Z.
Publicado: (2019)

Successful cardiac sympathetic denervation for Andersen–Tawil syndrome
por: Krych, Michalina, et al.
Publicado: (2023)

Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome
por: Moreno-Manuel, Ana Isabel, et al.
Publicado: (2022)

Propafenone is not effective for severe ventricular arrhythmias in Andersen-Tawil syndrome
por: Bienias, Piotr, et al.
Publicado: (2016)

Atrial pacing for the management of ventricular arrhythmias in Andersen-Tawil syndrome
por: Fadahunsi, Opeyemi, et al.
Publicado: (2015)

A case report of Andersen-Tawil syndrome misdiagnosed with myodystrophy
por: Zhao, Xiuqin, et al.
Publicado: (2023)

Andersen–Tawil Syndrome and Hypothyroidism: A Case Report with an Unusual Association
por: Saalim, Mohd, et al.
Publicado: (2019)

Andersen–Tawil Syndrome With Novel Mutation in KCNJ2: Case Report
por: Yim, Jisook, et al.
Publicado: (2022)

Case report: Mexiletine suppresses ventricular arrhythmias in Andersen-Tawil syndrome
por: Yang, Jing, et al.
Publicado: (2022)

Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome
por: Le Tanno, Pauline, et al.
Publicado: (2021)

Sanger sequencing as a first-line approach for molecular diagnosis of Andersen-Tawil syndrome
por: Totomoch-Serra, Armando, et al.
Publicado: (2017)

Asymptomatic ventricular tachycardia: diagnostic pitfalls of Andersen–Tawil syndrome—a case report
por: Nguyen, Dustin, et al.
Publicado: (2018)

Flecainide treats a novel KCNJ2 mutation associated with Andersen-Tawil syndrome
por: Van Ert, Hanora A., et al.
Publicado: (2016)

Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients
por: Scheiper, Stefanie, et al.
Publicado: (2017)

Multivariate analysis of TU wave complex on electrocardiogram in Andersen–Tawil syndrome with KCNJ2 mutations
por: Horigome, Hitoshi, et al.
Publicado: (2019)

Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation
por: Deeb, Reem, et al.
Publicado: (2018)

Andersen–Tawil Syndrome Is Associated With Impaired PIP(2) Regulation of the Potassium Channel Kir2.1
por: Handklo-Jamal, Reem, et al.
Publicado: (2020)

Phenotypic variability in a series of four pediatric patients with Andersen-Tawil syndrome: A Saudi experience
por: Alrashed, Norah A., et al.
Publicado: (2019)

Flecainide ameliorates arrhythmogenicity through NCX flux in Andersen-Tawil syndrome-iPS cell-derived cardiomyocytes
por: Kuroda, Yusuke, et al.
Publicado: (2017)

Successful treatment of arrhythmia with β‐blocker and flecainide combination in pregnant patients with Andersen–Tawil syndrome: A case report and literature review
por: Rujirachun, Pongprueth, et al.
Publicado: (2020)

General anesthesia using propofol infusion for implantation of an implantable cardioverter defibrillator in a pediatric patient with Andersen-Tawil syndrome: a case report
por: Park, Seyeon, et al.
Publicado: (2023)

Resolution of Fulminant Idiopathic Intracranial Hypertension Treated with Acetazolamide
por: Srivastava, Ojas, et al.
Publicado: (2022)

Reversible Severe Rhabdomyolysis Associated with Thyrotoxic Hypokalemic Periodic Paralysis
por: Sathirapanya, Praewchompoo, et al.
Publicado: (2021)

IgA Nephropathy in a Patient Treated with Adalimumab
por: Mertelj, Tonja, et al.
Publicado: (2021)

Extracellular cysteine disulfide bond break at Cys122 disrupts PIP(2)-dependent Kir2.1 channel function and leads to arrhythmias in Andersen-Tawil Syndrome
por: Cruz, Francisco M., et al.
Publicado: (2023)

Mind the Gap: Successful Endoscopic Closure of a Large Gastric Sleeve Leak Using an Endoscopic Stent and Over-the-Scope Clips
por: Anastasiou, Jiannis, et al.
Publicado: (2017)

Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature
por: Miroševič, Špela, et al.
Publicado: (2022)

Necrobiosis Lipoidica: Atypical Presentation in a Diabetic Girl
por: Alhameedy, Meshal M.
Publicado: (2021)

A Note on the Spectral Gap of the Fredrickson–Andersen One Spin Facilitated Model
por: Shapira, Assaf
Publicado: (2020)

Cuentos de Andersen.
por: Andersen, H. C. (Hans Christian), 1805-1875
Publicado: (1984)

Cuentos de Andersen
por: Andersen, H. C. (Hans Christian), 1805-1875
Publicado: (1970)

Joachim Andersen : a bio-bibliography /
por: Dzapo, Kyle J.
Publicado: (1999)

Prominent Prolongation of Cortical Silent Period Induced by Transcranial Magnetic Stimulation in Creutzfeldt-Jakob Disease
por: Matsumoto, Hideyuki, et al.
Publicado: (2020)

Psoriasiform Diaper Rash Possibly Induced by Oral Propranolol in an 18-Month-Old Girl with Infantile Hemangioma
por: Baggio, Raphaëlle, et al.
Publicado: (2016)

Symmetric Ascending Paralysis Secondary to West Nile Virus
por: Ashkin, Alex, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_po0njfrrp1mg66m945m5mkp43i