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

Autor: Ververi, Athina, Zagaglia, Sara, Menzies, Lara, Baptista, Julia, Caswell, Richard, Baulac, Stephanie, Ellard, Sian, Lynch, Sally, Consortium, Genomics England Research, Jacques, Thomas S, Chawla, Maninder Singh, Heier, Martin, Kulseth, Mari Ann, Mero, Inger-Lise, Våtevik, Anne Katrine, Kraoua, Ichraf, Rhouma, Hanene Ben, Younes, Thouraya Ben, Miladi, Zouhour, Turki, Ilhem Ben Youssef
Zdroj: Human Molecular Genetics; 2/15/2023, Vol. 32 Issue 4, p580-594, 15p
Databáze: Complementary Index