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The genetic and phenotypic spectrum of GABRB1-related disorders.
Millevert C, Kan ASH, Hanke M, Koko M, Omidvar ME, Hedrich UBS, Wuttke TV, Barišić N, Lagae L, Aledo-Serrano Á, Niehoff EM, Platzer K, Zacher P, Polster T, Dilena R, Monfrini E, Geneviève D, Roubertie A, Bruel AL, Tran Mau-Them F, Dasouki M, Cohen S, Helbig I, Harrison AG, Colin E, Dubbs HA, Marsh ED, Lebon S, He N, Meng H, Chebib M, Møller RS, Marini C, Ahring PK, Lerche H, Weckhuysen S. Millevert C, et al. Among authors: he n. Brain. 2025 Jun 5:awaf213. doi: 10.1093/brain/awaf213. Online ahead of print. Brain. 2025. PMID: 40472023
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: he n. Brain. 2024 Oct 3;147(10):3442-3457. doi: 10.1093/brain/awae191. Brain. 2024. PMID: 38875478
UNC13B variants associated with partial epilepsy with favourable outcome.
Wang J, Qiao JD, Liu XR, Liu DT, Chen YH, Wu Y, Sun Y, Yu J, Ren RN, Mei Z, Liu YX, Shi YW, Jiang M, Lin SM, He N, Li B, Bian WJ, Li BM, Yi YH, Su T, Liu HK, Gu WY, Liao WP. Wang J, et al. Among authors: he n. Brain. 2021 Nov 29;144(10):3050-3060. doi: 10.1093/brain/awab164. Brain. 2021. PMID: 33876820 Free PMC article.
Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene.
Liu XR, Huang D, Wang J, Wang YF, Sun H, Tang B, Li W, Lai JX, He N, Wu M, Su T, Meng H, Shi YW, Li BM, Tang BS, Liao WP. Liu XR, et al. Among authors: he n. Neurol Genet. 2016 Mar 22;2(2):e66. doi: 10.1212/NXG.0000000000000066. eCollection 2016 Apr. Neurol Genet. 2016. PMID: 27123484 Free PMC article.
2,688 results