DEPDC5 variant in focal cortical dysplasia: a case report and review of the literature

Germline and 2-hit brain somatic variants in DEPDC5 gene, a negative regulator of the mammalian target of rapamycin (mTOR) pathway, are increasingly recognized in patients with focal cortical dysplasia (FCD). Next-generation targeted sequencing identified a heterozygous germline variant in DEPDC5 gene (c.3241A>C, p.Thr1081Pro), classified as of unknown significance, in a patient with clinical features compatible with DEPDC5 phenotype (FCD, focal epilepsy, attention-deficit/hyperactivity disorder…

via https://pubmed.ncbi.nlm.nih.gov/34055363/?utm_source=no_user_agent&utm_medium=rss&utm_campaign=None&utm_content=1L37KAMf2b_g4WEK3LmdFuKZu9pO3cN7u4ZmO9PPCPeBLMIw1q&fc=None&ff=20210615010902&v=2.14.4


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