학술논문
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
Document Type
Article
Author
Ververi, A.; Menzies, L.; Jones, W.D.; Clement, E.; Zagaglia, S.; Sisodiya, S.M.; Baptista, J.; Caswell, R.; Ellard, S.; Baulac, S.; Lynch, S.; Jacques, T.S.; Merve, A.; Chawla, M.S.; Heier, M.; Kulseth, M.A.; Mero, I.-L.; Keim, S.M.Bø.; Våtevik, A.K.; Kraoua, I.; Ben Rhouma, H.; Ben Younes, T.; Miladi, Z.; Ben Youssef Turki, I.; Eltze, C.; Devile, C.; Kaliakatsos, M.; Prabhakar, P.P.; Robinson, R.; Mankad, K.; Sudhakar, S.; Parker, J.; Hoskins, B.; Pressler, R.; Homfray, T.; Habibi, I.; Reymond, A.; Hurst, J.A.
Source
In: Human Molecular Genetics . (Human Molecular Genetics, 15 February 2023, 32(4):580-594)
Subject
Language
English
ISSN
14602083
09646906
09646906