Abstract

We describe an 11.5-year-old male who has profound intellectual disability, treatment resistant epilepsy with temperature sensitive seizures, and paroxysms of autonomic storming, atypical brain magnetic resonance imaging, and microcephaly.  He has a 5.7 Mb deletion at 2q24.3-31.1, which includes the SCN1A gene.  This is the first report of periodic and recurrent autonomic storming associated with Dravet syndrome, which is both prevented and treated with clonidine.  Comparison to other reported individuals with the same deletion and genotype-phenotype correlations are discussed.