Cargando…

EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10

EAST syndrome is a recently described autosomal recessive disorder secondary to mutations in KCNJ10 (Kir4.1), a gene encoding a potassium channel expressed in the brain, eye, ear and kidney. This condition is characterized by 4 cardinal features; Epilepsy, Ataxia, Sensorineural deafness, and (a rena...

Descripción completa

Detalles Bibliográficos
Autores principales:	Abdelhadi, Ola, Iancu, Daniela, Stanescu, Horia, Kleta, Robert, Bockenhauer, Detlef
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Taylor & Francis 2016
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4961265/ https://www.ncbi.nlm.nih.gov/pubmed/27500072 http://dx.doi.org/10.1080/21675511.2016.1195043

Ejemplares similares

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome
por: Abdelhadi, Ola, et al.
Publicado: (2016)

Epilepsy in kcnj10 Morphant Zebrafish Assessed with a Novel Method for Long-Term EEG Recordings
por: Zdebik, Anselm A., et al.
Publicado: (2013)

Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)
por: Islam, Sumaya, et al.
Publicado: (2021)

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome
por: Mahmood, Fahad, et al.
Publicado: (2013)

OVAS: an open-source variant analysis suite with inheritance modelling
por: Mozere, Monika, et al.
Publicado: (2018)

Bartter and Gitelman syndromes: Questions of class
por: Besouw, Martine T. P., et al.
Publicado: (2019)

Clinical and diagnostic features of Bartter and Gitelman syndromes
por: Walsh, Patrick R, et al.
Publicado: (2018)

Tubulopathy meets Sherlock Holmes: biochemical fingerprinting of disorders of altered kidney tubular salt handling
por: Bockenhauer, Detlef, et al.
Publicado: (2021)

Novel KCNJ10 Compound Heterozygous Mutations Causing EAST/SeSAME-Like Syndrome Compromise Potassium Channel Function
por: Zhang, Hongfeng, et al.
Publicado: (2019)

Retinal Development and Pathophysiology in Kcnj13 Knockout Mice
por: Jiao, Xiaodong, et al.
Publicado: (2022)

Zebrafish as a model for kidney function and disease
por: Outtandy, Priya, et al.
Publicado: (2018)

Long-term outcome in inherited nephrogenic diabetes insipidus
por: Sharma, Sonia, et al.
Publicado: (2018)

Long-term outcome in inherited nephrogenic diabetes insipidus
por: Sharma, Sonia, et al.
Publicado: (2020)

Shared genetic risk across different presentations of gene test–negative idiopathic nephrotic syndrome
por: Downie, Mallory L., et al.
Publicado: (2022)

Ablation of Kcnj10 expression in retinal explants revealed pivotal roles for Kcnj10 in the proliferation and development of Müller glia
por: Arai, Eisuke, et al.
Publicado: (2015)

Genetic causes of hypomagnesemia, a clinical overview
por: Viering, Daan H. H. M, et al.
Publicado: (2016)

A novel mutation KCNJ11 R136C caused KCNJ11-MODY
por: Chen, Yaning, et al.
Publicado: (2021)

Pathophysiological and Pharmacological Characteristics of KCNJ5 157-159delITE Somatic Mutation in Aldosterone-Producing Adenomas
por: Peng, Kang-Yung, et al.
Publicado: (2021)

DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea
por: Cho, Ja Hyang, et al.
Publicado: (2017)

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

A Genetic Risk Score Distinguishes Different Types of Autoantibody-Mediated Membranous Nephropathy
por: Gupta, Sanjana, et al.
Publicado: (2023)

Fainting Fanconi syndrome clarified by proxy: a case report
por: Walsh, Stephen Benedict, et al.
Publicado: (2017)

Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome in a European child with KCNJ10 mutations: A case report
por: Papavasiliou, Antigone, et al.
Publicado: (2017)

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

Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK
por: Issler, Naomi, et al.
Publicado: (2017)

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

Pathophysiological and Genetic Aspects of Vascular Calcification
por: Escobar Guzman, Luis Fernando, et al.
Publicado: (2020)

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts
por: Landa, Priya, et al.
Publicado: (2013)

KCNJ11: Genetic Polymorphisms and Risk of Diabetes Mellitus
por: Haghvirdizadeh, Polin, et al.
Publicado: (2015)

Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance
por: Nadella, Ravi K., et al.
Publicado: (2019)

Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome
por: Downie, Mallory L., et al.
Publicado: (2023)

Clinical Translationality of KCNJ5 Mutation in Aldosterone Producing Adenoma
por: Kitamoto, Takumi, et al.
Publicado: (2022)

Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group
por: Lipska-Ziętkiewicz, Beata Stefania, et al.
Publicado: (2020)

Transient Neonatal Diabetes due to a Mutation in KCNJ11 in a Child with Klinefelter Syndrome
por: Dahl, Amanda R., et al.
Publicado: (2018)

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

HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood
por: Adalat, Shazia, et al.
Publicado: (2019)

Potential and pitfalls in the genetic diagnosis of kidney diseases
por: Kesselheim, Anne, et al.
Publicado: (2017)

Common Variants of KCNJ10 Are Associated with Susceptibility and Anti-Epileptic Drug Resistance in Chinese Genetic Generalized Epilepsies
por: Guo, Yong, et al.
Publicado: (2015)

Mutational analysis of KCNJ11 in Chinese elderly essential hypertensive patients
por: Li, Jia-Yue, et al.
Publicado: (2012)

A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes
por: Gole, Evangelia, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_fgmtk8b0ul5cgg219f29kjtir6