PCDH19 and encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy: PCDH19 mutations were initially thought to only affect females, however, in 2009, Depienne and colleagues [4] described a SCN1A-negative male diagnosed with “Dravet syndrome”, as having a de novo deletion on chromosome Xq22.1 that spanned the entire PCDH19 gene.