Varaico: Literature-Extracted Genetic Variants

Gene:DEPDC5
Variant:p.Q289*
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DEPDC5

NM_001242896.3:p.Q289*

Associated Papers

Targeting pathological cells with senolytic drugs reduces seizures in neurodevelopmental mTOR-related epilepsy.

Ribierre T et al.

Nature Neuroscience, 2024

Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.

Lee WS et al.

International Journal of Molecular Sciences, 2022

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

Jesus-Ribeiro J et al.

Oxford Medical Case Reports, 2021

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.

Baldassari S et al.

Acta Neuropathologica, 2019

[A second-hit somatic mutation drives neurodevelopmental epilepsy].

Ribierre T et al.

Medecine Sciences : M/s, 2019

Brain Somatic Mutations in Epileptic Disorders.

Koh HY et al.

Molecules and Cells, 2018

Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy.

Ribierre T et al.

The Journal of Clinical Investigation, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."