Article
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Human molecular genetics - 27 Jan 2023
Ververi Athina, Zagaglia Sara, Menzies Lara, Baptista Julia, Caswell Richard, Baulac Stephanie, Ellard Sian, Lynch Sally, Jacques Thomas S, Chawla Maninder Singh, Heier Martin, Kulseth Mari Ann, Mero Inger-Lise, Våtevik Anne Katrine, Kraoua Ichraf, Ben Rhouma Hanene, Ben Younes Thouraya, Miladi Zouhour, Ben Youssef Turki Ilhem, Jones Wendy D, Clement Emma, Eltze Christin, Mankad Kshitij, Merve Ashirwad, Parker Jennifer, Hoskins Bethan, Pressler Ronit, Sudhakar Sniya, DeVile Catherine, Homfray Tessa, Kaliakatsos Marios, Robinson Robert, Keim Sara Margrete Bøen, Habibi Imen, Reymond Alexandre, Sisodiya Sanjay M, Hurst Jane A
Abstract excerpt
DEPDC5 (DEP Domain-Containing Protein 5) encodes an inhibitory component of the mammalian target of rapamycin (mTOR) pathway and is commonly implicated in sporadic and familial focal epilepsies, both non-lesional and in association with focal cortical dysplasia. Germline pathogenic variants are typically heterozygous and inactivating. We describe a novel phenotype caused by germline biallelic missense variants in...
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