Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria

Athina Ververi, Sara Zagaglia, Lara Menzies, Julia Baptista, Richard Caswell, Stephanie Baulac, Sian Ellard, Sally Lynch, Thomas S. Jacques, Maninder Singh Chawla, Martin Heier, Mari Ann Kulseth, Inger Lise Mero, Anne Katrine Våtevik, Ichraf Kraoua, Rhouma H Ben, Younes T Ben, Zouhour Miladi, Youssef Turki I Ben, Wendy D. JonesEmma Clement, Christin Eltze, Kshitij Mankad, Ashirwad Merve, Jennifer Parker, Bethan Hoskins, Ronit Pressler, Sniya Sudhakar, Catherine Devile, Tessa Homfray, Marios Kaliakatsos, Robert Robinson, Sara Margrete Bøen Keim, Imen Habibi, Alexandre Reymond, Sanjay M. Sisodiya*, Jane A. Hurst

*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

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Biochemistry, Genetics and Molecular Biology