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A synaptic protein defect associated with reflex seizure disorder


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 of characterizing the epilepsy phenotypes and analyzing genotype-phenotype correlations. Mutations in SYNGAP1 were first identified in 2009 in patients with nonsyndromic intellectual disability and autism spectrum disorder and then recognized as an important cause of developmental delay and epileptic encephalopathy.2–4

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