OBO ID: DOID:0112202

Citations

(9 total)

Term: developmental and epileptic encephalopathy

Bögershausen, N., Cavdarli, B., Nagai, T.H., Milev, M.P., Wolff, A., Mehranfar, M., Schmidt, J., Choudhary, D., Gutiérrez-Gutiérrez, Ó., Cyganek, L., Saint-Dic, D., Zibat, A., Köhrer, K., Wollenweber, T.E., Wieczorek, D., Altmüller, J., Borodina, T., Kaçar, D., Haliloğlu, G., Li, Y., Thiel, C., Sacher, M., Knapik, E.W., Yigit, G., Wollnik, B. (2025) SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis. JCI insight. 10:e173484

Robichon, L., Bar, C., Marian, A., Lehmann, L., Renault, S., Kabashi, E., Ciura, S., Nabbout, R. (2025) kcnb1 loss of function in zebrafish causes neurodevelopmental and epileptic disorders associated with γ-aminobutyric acid dysregulation. Epilepsia. 66:3048-3063

Varela, T., Varela, D., Conceição, N., Cancela, M.L. (2025) Transcriptomic Profiling of Zebrafish Mutant for cdkl5 Reveals Dysregulated Gene Expression Associated with Neuronal, Muscle, Visual and Skeletal Development. International Journal of Molecular Sciences. 26:

Whyte-Fagundes, P., Marafiga, J.R., Zhu, B., Baraban, S.C. (2025) Zebrafish models of developmental epileptic encephalopathy accurately reflect clinical electrographic biomarkers. Epilepsia. 67:923-933

Zhang, G., Lu, Y., Xie, L., Begemann, A., Papuc, S.M., Zweier, M., Steindl, K., Rauch, A., Mayr, J.A., Koch, J., Feichtinger, R.G., Elmslie, F., Kulosik, L., Jamra, R.A., Harmsen, S., Wang, S., He, M., Zhang, L., Zhou, W., Wang, C., Liu, X., Zhang, A., Zheng, B. (2025) De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathies. Epilepsia. 67:480-498

Brugger, M., Lauri, A., Zhen, Y., Gramegna, L.L., Zott, B., Sekulić, N., Fasano, G., Kopajtich, R., Cordeddu, V., Radio, F.C., Mancini, C., Pizzi, S., Paradisi, G., Zanni, G., Vasco, G., Carrozzo, R., Palombo, F., Tonon, C., Lodi, R., La Morgia, C., Arelin, M., Blechschmidt, C., Finck, T., Sørensen, V., Kreiser, K., Strobl-Wildemann, G., Daum, H., Michaelson-Cohen, R., Ziccardi, L., Zampino, G., Prokisch, H., Abou Jamra, R., Fiorini, C., Arzberger, T., Winkelmann, J., Caporali, L., Carelli, V., Stenmark, H., Tartaglia, M., Wagner, M. (2024) Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy. American journal of human genetics. 111(3):594-613

Liu, W., Gao, K., Du, X., Wen, S., Yan, H., Wang, J., Wang, Y., Song, C., Lin, L., Ji, T., Gu, W., Jiang, Y. (2024) SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy. Acta epileptologica. 6:42

Suo, G., Cao, X., Zheng, Y., Li, H., Zhang, Q., Tang, J., Wu, Y. (2021) A de novo nonsense mutation of STXBP1 causes early-onset epileptic encephalopathy. Epilepsy & behavior : E&B. 123:108245

Lu, Q., Zhang, M.N., Shi, X.Y., Zhang, L.Q., Wang, Y.Y., Liu, L.Y., He, W., Chen, H.M., He, B., Zou, L.P. (2020) Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a. American journal of medical genetics. Part A. 185(2):377-383