Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities-Reference-Cited by-同舟云学术

Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities

Published:2017-11-30 Issue:1 Volume:32 Page:1-5
ISSN:0167-7063
Container-title:Journal of Neurogenetics
language:en
Short-container-title:Journal of Neurogenetics

Author:

Al Dhaibani Muna A.¹^ORCID,El-Hattab Ayman W.²,Holroyd Kathryn B.³^ORCID,Orthmann-Murphy Jennifer⁴^ORCID,Larson Valerie A.⁴,Siddiqui Khurram A.⁵^ORCID,Szolics Miklos⁶,Schiess Nicoline⁷^ORCID

Affiliation:

1. Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates;

2. Division of Clinical Genetics and Metabolic Disorders Pediatrics Department, Tawam Hospital, Al Ain, United Arab Emirates;

3. Brigham and Women’s Hospital, Boston, MA, USA;

4. Johns Hopkins Hospital and Health System, Baltimore, MD, USA;

5. Al Ain Hospital, Al Ain, United Arab Emirates;

6. Department of Neurology, Al Tawam Hospital, Al Ain, United Arab Emirates;

7. Department of Neurology, Johns Hopkins University, Baltimore, MD, USA

Publisher

Informa UK Limited

Subject

Cellular and Molecular Neuroscience,Genetics

Link

https://www.tandfonline.com/doi/pdf/10.1080/01677063.2017.1404057

Reference20 articles.

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

2. Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations

3. Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility

4. Implication of Kir4.1 Channel in Excess Potassium Clearance: An In Vivo Study on Anesthetized Glial-Conditional Kir4.1 Knock-Out Mice

5. Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency;Annals of Neurology;2024-07-09

2. Aglycosylated extracellular loop of inwardly rectifying potassium channel 4.1 (KCNJ10) provides a target for autoimmune neuroinflammation;Brain Communications;2023-02-22

3. Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability;Archives of Iranian Medicine;2022-12-01

4. EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies;Frontiers in Physiology;2022-03-15

5. Administration of All-Trans Retinoic Acid to Pregnant Sows Alters Gut Bacterial Community of Neonatal Piglets With Different Hoxa1 Genotypes;Frontiers in Microbiology;2021-07-26