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

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References

  1. Catterall WA, Dib-Hajj S, Meisler MH, Pietrobon D (2008) Inherited neuronal ion channelopathies: new window on complex neurological diseases. J Neurosci 28:11768–11777

    Article  PubMed  CAS  Google Scholar 

  2. Baulac S, Baulac M (2010) Advances on the genetics of Mendelian idiopathic epilepsies. Clin Lab Med 30:911–929

    Article  PubMed  Google Scholar 

  3. Scholl UI, Choi M, Liu T et al (2009) Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc Nat Acad Sci 106:5842–5847

    Article  PubMed  CAS  Google Scholar 

  4. Bockenhauer D, Feather S, Stanescu HC et al (2009) Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Eng J Med 360:1960–1970

    Article  CAS  Google Scholar 

  5. Ito M, Inanobe A, Horio Y, Hibino H et al (1996) Immunolocalization of an inwardly rectifying K+ channel, K(AB)-2 (Kir4.1), in the basolateral membrane of renal distal tubular epithelia. FEBS Lett 388:11–15

    Article  PubMed  CAS  Google Scholar 

  6. Rosengurt N, Lopez I, Chiu CS, Kofuji P, Lester HA, Neusch C (2003) Time course of inner ear degeneration and deafness in mice lacking the Kir4.1 potassium channel subunit. Hear Res 177:71–80

    Article  Google Scholar 

  7. Neusch C, Rozengurt N, Jacobs RE, Lester HA, Kofuji P (2001) Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination. J Neurosci 21:5429–5438

    PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Pediatric Neurology, Kocaeli Medical Faculty, Kocaeli, Turkey

    Bülent Kara

  2. Department of Pediatric Neurology, Istanbul Medical Faculty, Arkeon sitesi A5 blok D 3, Dereboyu cad., Ortakoy, Besiktas, Istanbul, Turkey

    Barış Ekici

  3. Department of Pediatrics, Kocaeli Medical Faculty, Kocaeli, Turkey

    Belkıs İpekçi

  4. Department of Medical Genetics, Derince Research Hospital, Kocaeli/İstanbul, Turkey

    Ayça Koçbaş Aslanger

  5. Department of Genetics and Internal Medicine and Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, USA

    Ute Scholl

Authors
  1. Bülent Kara
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  2. Barış Ekici
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  3. Belkıs İpekçi
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  4. Ayça Koçbaş Aslanger
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  5. Ute Scholl
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Correspondence to Barış Ekici.

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Kara, B., Ekici, B., İpekçi, B. et al. KCNJ10 gene mutation in an 8-year-old boy with seizures. Acta Neurol Belg 113, 75–77 (2013). https://doi.org/10.1007/s13760-012-0113-2

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  • DOI: https://doi.org/10.1007/s13760-012-0113-2

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