SeizureHumansp21-Activated KinasesMaleFemaleSpasms
Novel PAK1 variants related to a variable phenotypic spectrum ranging from mild developmental delay to infantile epileptic spasms syndrome.
Ting Wang, Shijia Ouyang, Dongfang Zou, Zeyong Dong, Zeshi Tan, Haipo Yang, Jianxiang Liao, Dezhi Cao, Yuehua Zhang
Published: 202510.1016/j.seizure.2025.10.010
Abstract
OBJECTIVE: To identify the novel variants and explore the new phenotypes of patients with PAK1-related disorder. METHODS: Five patients with PAK1 variants were identified by whole-exon sequencing. Damaging effects of variants were analyzed using prot…
Preview only. Read the full abstract at the source