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In the recent 3 years, subjects with Pumilio1-associated developmental disability, ataxia, and seizure syndrome have been identified as harboring Pumilio homolog 1 ( PUM1 ) mutations. However, the characteristics of the seizure phenotype remain to be elucidated. We herein described a 3-year-old female proband who was diagnosed with developmental and epileptic encephalopathy presenting with some features suggestive of a Dravet-like syndrome. For genetic analyses, trio-based whole-exome sequencing and array comparative genomic hybridization were performed. Consequently, a  de novo  heterozygous missense variant was identified in exon 22 of the  PUM1  gene: NM_001020658: c.3439C &amp;gt; T (p.Arg1147Trp). Upon thoroughly reviewing the existing literature, nine cases of  PUM1  mutation-related epilepsy were identified, and their clinical features were summarized. A relationship between  PUM1  mutation and clinical manifestations characteristic of a Dravet-like syndrome was proposed. To our knowledge, this is the first report of a patient with  PUM1  mutation presenting with a Dravet-like syndrome.

A de novo PUM1 Variant in a Girl With a Dravet-Like Syndrome: Case Report and Literature Review