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Heterozygous variants in USP25 cause genetic generalized epilepsy.
Fan CX, Liu XR, Mei DQ, Li BM, Li WB, Xie HC, Wang J, Shen NX, Ye ZL, You QL, Li LY, Qu XC, Chen LZ, Liang JJ, Zhang MR, He N, Li J, Gao JY, Deng WY, Liu WZ, Wang WT, Liao WP, Chen Q, Shi YW. Fan CX, et al. Among authors: liao wp. Brain. 2024 Oct 3;147(10):3442-3457. doi: 10.1093/brain/awae191. Brain. 2024. PMID: 38875478
Milder phenotype with SCN1A truncation mutation other than SMEI.
Yu MJ, Shi YW, Gao MM, Deng WY, Liu XR, Chen L, Long YS, Yi YH, Liao WP. Yu MJ, et al. Among authors: liao wp. Seizure. 2010 Sep;19(7):443-5. doi: 10.1016/j.seizure.2010.06.010. Epub 2010 Jul 14. Seizure. 2010. PMID: 20630778 Free article.
157 results