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

• Main Authors: Yuanzhen Ye (Author), Zhanqi Hu (Author), Jiahui Mai (Author), Li Chen (Author), Dezhi Cao (Author), Jianxiang Liao (Author), Jing Duan (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...