Sep 29, 2016 · DEPDC5-related epilepsy encompasses a range of epilepsy syndromes, almost all of which are characterized by focal seizures, with seizure onset ...
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Mar 1, 2017 · The DEPDC5 gene provides instructions for making a protein that is one piece of a group of proteins (complex) called GATOR1.
Apr 3, 2024 · This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin ...
DEPDC5-related epilepsy is a newly discovered predominantly familial focal epilepsy. •. It is linked to the occurrence of infantile spasms and SUDEP.
This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) ...
DEPDC5. The protein encoded by DEPDC5 is a member of the GATOR1 complex that inhibits mammalian targets of rapamycin–mediated processes, including cell growth ...
The DEPDC5 gene encodes a GTPase that, together with NPRL2 (607072) and NPRL3 (600928), constitutes the GATOR1 complex, which inhibits RAG (see, e.g., ...
Mar 31, 2013 · We report DEPDC5 mutations in seven large families with FFEVF and in approximately 12% of smaller families with focal epilepsy and a de novo ...
Mutations in the disheveled, Egl-10 and domain-containing protein 5 (DEPDC5) recently have been identified as a common cause of focal epilepsy syndromes.