SHROOM4 Variants Are Associated With X-Linked Epilepsy With Features of Generalized Seizures or Generalized Discharges
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DOI: 10.3389/fnmol.2022.862480
Abstract: Objective SHROOM4 gene encodes an actin-binding proteins, which plays an important role in cytoskeletal architecture, synaptogenesis, and maintaining gamma-aminobutyric acid receptors-mediated inhibition. SHROOM4 mutations were reported in patients with the Stocco dos Santos type of… read more here.
Keywords: features generalized; variants associated; generalized seizures; shroom4 ... See more keywords