Literature DB >> 22782654

KCNJ10 gene mutation in an 8-year-old boy with seizures.

Bülent Kara, Barış Ekici, Belkıs Ipekçi, Ayça Koçbaş Aslanger, Ute Scholl.   

Abstract

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Year:  2012        PMID： 22782654     DOI： 10.1007/s13760-012-0113-2

Source DB:  PubMed          Journal:  Acta Neurol Belg        ISSN： 0300-9009            Impact factor:   2.396


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  7 in total

Review 1.  Inward rectifier potassium (Kir) channels in the retina: living our vision.

Authors:  Katie M Beverley; Bikash R Pattnaik
Journal:  Am J Physiol Cell Physiol       Date:  2022-08-01       Impact factor: 5.282

2.  Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.

Authors:  Matias Morin; Anna-Lena Forst; Paula Pérez-Torre; Adriano Jiménez-Escrig; Verónica Barca-Tierno; Eva García-Galloway; Richard Warth; Jose Luis Lopez-Sendón Moreno; Miguel Angel Moreno-Pelayo
Journal:  Neurogenetics       Date:  2020-02-15       Impact factor: 2.660

3.  Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia.

Authors:  Francesco Nicita; Giorgio Tasca; Marta Nardella; Emanuele Bellacchio; Ilaria Camponeschi; Gessica Vasco; Tommaso Schirinzi; Enrico Bertini; Ginevra Zanni
Journal:  Cerebellum       Date:  2018-08       Impact factor: 3.847

4.  Inhibition of Inwardly Rectifying Potassium (Kir) 4.1 Channels Facilitates Brain-Derived Neurotrophic Factor (BDNF) Expression in Astrocytes.

Authors:  Masato Kinboshi; Takahiro Mukai; Yuki Nagao; Yusuke Matsuba; Yoshimi Tsuji; Shiho Tanaka; Kentaro Tokudome; Saki Shimizu; Hidefumi Ito; Akio Ikeda; Atsushi Inanobe; Yoshihisa Kurachi; Seiji Inoue; Yukihiro Ohno
Journal:  Front Mol Neurosci       Date:  2017-12-07       Impact factor: 5.639

5.  Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome in a European child with KCNJ10 mutations: A case report.

Authors:  Antigone Papavasiliou; Katerina Foska; John Ioannou; Mato Nagel
Journal:  SAGE Open Med Case Rep       Date:  2017-07-27

Review 6.  EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.

Authors:  Jacky Lo; Anna-Lena Forst; Richard Warth; Anselm A Zdebik
Journal:  Front Physiol       Date:  2022-03-15       Impact factor: 4.566

7.  Novel KCNJ10 Compound Heterozygous Mutations Causing EAST/SeSAME-Like Syndrome Compromise Potassium Channel Function.

Authors:  Hongfeng Zhang; Lin Zhu; Fengpeng Wang; Ruimin Wang; Yujuan Hong; Yangqin Chen; Bin Zhu; Yue Gao; Hong Luo; Xian Zhang; Hao Sun; Ying Zhou; Yi Yao; Xin Wang
Journal:  Front Genet       Date:  2019-11-08       Impact factor: 4.599
  7 in total

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