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    Infantile epileptic spasms syndrome as a new phenotype in TOP2B deficiency caused by a de novo variant: a case report and literature review

    Infantile epileptic spasms syndrome as a new phenotype in TOP2B deficiency caused by a de novo variant: a case report and literature review by Guo-qin Zhu, Guo-qin Zhu, Yao Yao, Yao Yao, Ling-yun Yang, Ling-yun Yang, Ying Hua, Ying Hua, Guo-min Li, Guo-min Li

    Published 2025-06-01
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