Article
Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self-limited infantile epilepsy by trios whole-exome sequencing.
Epilepsia open - 1 Feb 2026
Sun Yihong, Chen Ningning, Chen Congjie, Lu Weitian, Wan Qian, Li Tingsong, Cun Yupeng
Abstract excerpt
OBJECTIVE: Infantile epileptic spasms syndrome (IESS) and self-limited infantile epilepsy (SeLIE) are both genetically heterogeneous disorders during infancy with distinct prognoses. To better define the genetic spectrum of IESS, we performed a comparative genetic analysis using SeLIE cases as a reference group. METHODS: We performed whole-exome sequencing in a Chinese cohort comprising 54 parent-offspring trios...
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