Articles with "defect associated" as a keyword



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A synaptic protein defect associated with reflex seizure disorder

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Published in 2019 at "Neurology"

DOI: 10.1212/wnl.0000000000006720

Abstract: In this issue of Neurology®, Vlaskamp et al.1 report a multicenter, international (Australia, Italy, the Netherlands, Germany, the United States, and China), collaborative study analyzing the phenotypic spectrum associated with SYNGAP1 mutations with the aim… read more here.

Keywords: reflex seizure; synaptic protein; protein defect; defect associated ... See more keywords