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Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy.
Luo S, Liu ZG, Wang J, Luo JX, Ye XG, Li X, Zhai QX, Liu XR, Wang J, Gao LD, Liu FL, Ye ZL, Li H, Gao ZF, Guo QH, Li BM, Yi YH, Liao WP. Luo S, et al. Among authors: gao zf, gao ld. Front Mol Neurosci. 2022 May 19;15:825390. doi: 10.3389/fnmol.2022.825390. eCollection 2022. Front Mol Neurosci. 2022. PMID: 35663266 Free PMC article.
BCOR variants are associated with X-linked recessive partial epilepsy.
Li X, Bian WJ, Liu XR, Wang J, Luo S, Li BM, Yi YH, Wu QY, Zhai QX, Gao LD, Zhang HF, He N, Liao WP; China Epilepsy Gene 1.0 Project. Li X, et al. Among authors: gao ld. Epilepsy Res. 2022 Nov;187:107036. doi: 10.1016/j.eplepsyres.2022.107036. Epub 2022 Oct 19. Epilepsy Res. 2022. PMID: 36279688
CELSR1 variants are associated with partial epilepsy of childhood.
Chen Z, Luo S, Liu ZG, Deng YC, He SL, Liu XR, Yi YH, Wang J, Gao LD, Li BM, Wu ZJ, Ye ZL, Liang DH, Bian WJ, Liao WP; China Epilepsy Gene 1.0 Project. Chen Z, et al. Among authors: gao ld. Am J Med Genet B Neuropsychiatr Genet. 2022 Oct;189(7-8):247-256. doi: 10.1002/ajmg.b.32916. Epub 2022 Aug 12. Am J Med Genet B Neuropsychiatr Genet. 2022. PMID: 36453712
62 results