Experimental and bioinformatic insights into the effects of epileptogenic variants on the function and trafficking of the gaba transporter gat-1

HIGHLIGHTS

  • who: Dolores Piniella and collaborators from the Centro Biologu00eda Molecular Severo Ochoa, Facultad Ciencias, Consejo Superior Investigaciones, Universidad Autu00f3noma Madrid, Madrid, Spain have published the research work: Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1, in the Journal: (JOURNAL) of 20/Nov/2022
  • what: The authors provide new experimental data on the pathogenic mechanisms of seven mutations in the SLC6A1 gene, and the authors try to rationalize these mechanisms with the protein structure and the bioinformatic methods currently available.
  • how . . .

     

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