Whole-exome resequencing of nearly 1000 individuals uniquely identified SCN1A as the sole gene in which two independent probands had non-sense variants that disrupted the same gene, a highly significant result ( Sanders et al., 2012 ) and this finding was again confirmed in a separate large resequencing study that found de novo protein altering mutations in the gene in probands with ASD ( O’Roak et al., 2012a ).
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