Skip to content
Post navigation
Quiroz, V., Alecu, J. E., Zubair, U., Bernardi, K., Zaman, Z., Rong, J., Tam, A., Kunta, A., Agianda, H. P., Battaglia, N., Schmidt, H. J. D., Resch, D., Wyman, N., Vogt, L. M., … Ebrahimi-Fakhari, D. (2025). Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients. Brain : a journal of neurology, awaf297. Advance online publication. https://doi.org/10.1093/brain/awaf297 Dafsari HS, Deneubourg C, Singh K, Maroofian R, Suprenant Z, Kho AL, Ingham NJ, Steel KP, Sheshadri P, Baur F, Hentrich L, Gerisch B, Zamani M, Alves C, Siddiqui A, Dafsari HS, Salari M, Lang AE, Harris M, Abdelaleem A, Sadeghian S, Azizimalamiri R, Galehdari H, Shariati G, Sedaghat A, Zeighami J, Calame D, Marafi D, Duan R, Boehnke A, Clark GD, Rosenfeld JA, Mohila CA, Steel D, Chopra S, Sharma S, Kohlschmidt N, Patzer S, Saffari A, Ebrahimi-Fakhari D, Çavdartepe BE, Chang IJ, Beckman E, Peters R, Fennell AP, Lo B, Averdunk L, Distelmaier F, Baethmann M, Elmslie F, Joost K, Nampoothiri S, Yesodharan D, Mandel H, Kimball A, Kline AD, Mignot C, Keren B, Laugel V, Õunap K, Devadathan K, van Berkestijn FMC, Silwal A, Koene S, Verma S, Karim MY, Boubidi C, Aziz M, ElGhazali G, Mattas L, Miryounesi M, Hashemi-Gorji F, Alavi S, Nouri N, Noruzinia M, Kavousi S, Kamath A, Jayawant S, Saneto R, Haridy NA, Kart PO, Cansu A, Joubert M, Beneteau C, Stuurman KE, Wilke M, Barakat TS, Tajsharghi H, Scardamaglia A, Vallian S, Hız S, Shoeibi A, Boostani R, Hashemi N, Babaei M, Alsaleh NS, Porter J, Attié-Bitach T, Marzin P, Wicher D, Gold JI, Schuler E, Kashgari A, Alanazi RF, Eyaid W, Engelen M, Langeveld M, Stüve B, Li Y, Yigit G, Wollnik B, Monje MHG, Krainc D, Mencacci NE, Bakhtiari S, Kruer M, Argilli E, Sherr E, Jamshidi Y, Karimiani EG, Cheung YWS, Karin I, Zifarelli G, Bauer P, Chung WK, Lupski JR, Kurian MA, Dötsch J, von Kleist-Retzow JC, Klopstock T, Wagner M, Yip C, Roos A, Carsetti R, Dionisi-Vici C, Gautel M, Duchen MR, Antebi A, Houlden H, Fanto M, Jungbluth H. Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism. Ann Neurol. 2025 Nov;98(5):932-950. doi: 10.1002/ana.78013. Epub 2025 Oct 6. PMID: 41053928; PMCID: PMC12577676.
