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@ARTICLE{Chivukula:878374,
      author       = {Chivukula, Aparna Sharma and Suslova, Mariia and Kortzak,
                      Daniel and Kovermann, Peter and Fahlke, Christoph},
      title        = {{F}unctional consequences of {SLC}1{A}3 mutations
                      associated with episodic ataxia 6},
      journal      = {Human mutation},
      volume       = {41},
      number       = {11},
      issn         = {1098-1004},
      address      = {New York, NY [u.a.]},
      publisher    = {Wiley-Liss},
      reportid     = {FZJ-2020-02814},
      pages        = {1892-1905},
      year         = {2020},
      abstract     = {The episodic ataxias (EA) are a group of inherited
                      neurological diseases characterized by paroxysmal cerebellar
                      incoordination. There exist nine forms of episodic ataxia
                      with distinct neurological symptoms and genetic origins.
                      Episodic ataxia type 6 (EA6) differs from other EA forms in
                      long attack duration, epilepsy and absent myokymia,
                      nystagmus, and tinnitus. It has been described in seven
                      families, and mutations in SLC1A3 , the gene encoding the
                      glial glutamate transporter EAAT1, were reported in each
                      family. How these mutations affect EAAT1 expression,
                      subcellular localization and function and how such
                      alterations result in the complex neurological phenotype of
                      EA6 is insufficiently understood. We here compare the
                      functional consequences of all currently known mutations by
                      heterologous expression in mammalian cells, biochemistry,
                      confocal imaging and whole‐cell patch clamp recordings of
                      EAAT1 transport and anion currents. We observed impairments
                      of multiple EAAT1 properties ranging from changes in
                      transport function, impaired trafficking to increased
                      protein expression. Many mutations caused only slight
                      changes illustrating how sensitively the cerebellum reacts
                      on impaired EAAT1 functions.},
      cin          = {IBI-1},
      ddc          = {610},
      cid          = {I:(DE-Juel1)IBI-1-20200312},
      pnm          = {553 - Physical Basis of Diseases (POF3-553)},
      pid          = {G:(DE-HGF)POF3-553},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:32741053},
      UT           = {WOS:000567441900001},
      doi          = {10.1002/humu.24089},
      url          = {https://juser.fz-juelich.de/record/878374},
}