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Clinical and functional consequences of GRIA variants in patients with neurological diseases.
XiangWei W, Perszyk RE, Liu N, Xu Y, Bhattacharya S, Shaulsky GH, Smith-Hicks C, Fatemi A, Fry AE, Chandler K, Wang T, Vogt J, Cohen JS, Paciorkowski AR, Poduri A, Zhang Y, Wang S, Wang Y, Zhai Q, Fang F, Leng J, Garber K, Myers SJ, Jauss RT, Park KL, Benke TA, Lemke JR, Yuan H, Jiang Y, Traynelis SF. XiangWei W, et al. Among authors: zhai q. Cell Mol Life Sci. 2023 Nov 3;80(11):345. doi: 10.1007/s00018-023-04991-6. Cell Mol Life Sci. 2023. PMID: 37921875
ADGRV1 Variants in Febrile Seizures/Epilepsy With Antecedent Febrile Seizures and Their Associations With Audio-Visual Abnormalities.
Zhou P, Meng H, Liang X, Lei X, Zhang J, Bian W, He N, Lin Z, Song X, Zhu W, Hu B, Li B, Yan L, Tang B, Su T, Liu H, Mao Y, Zhai Q, Yi Y. Zhou P, et al. Among authors: zhai q. Front Mol Neurosci. 2022 Jun 23;15:864074. doi: 10.3389/fnmol.2022.864074. eCollection 2022. Front Mol Neurosci. 2022. PMID: 35813073 Free PMC article.
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. 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. Epilepsy Res. 2022 Nov;187:107036. doi: 10.1016/j.eplepsyres.2022.107036. Epub 2022 Oct 19. Epilepsy Res. 2022. PMID: 36279688
1,189 results