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Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy
Open accessAbstract
DEP domain-containing 5 protein (DEPDC5) is a repressor of the recently recognized amino acid-sensing branch of the mTORC1 pathway. So far, its function in the brain remains largely unknown. Germline loss-of-function mutations in DEPDC5 have emerged as a major cause of familial refractory focal epilepsies, with case reports of sudden unexpected death in epilepsy (SUDEP). Remarkably, a fraction of patients also develop focal cortical dysplasia (FCD), a neurodevelopmental cortical malformation. We therefore hypothesized that a somatic second-hit mutation arising during brain development may support the focal nature of the dysplasia. Here, using postoperative human tissue, we provide the proof of concept that a biallelic 2-hit - brain somatic and germline - mutational mechanism in DEPDC5 causes focal epilepsy with FCD. We discovered a mutation gradient with a higher rate of mosaicism in the seizure-onset zone than in the surrounding epileptogenic zone. Furthermore, we demonstrate the causality of a Depdc5 brain mosaic inactivation using CRISPR-Cas9 editing and in utero electroporation in a mouse model recapitulating focal epilepsy with FCD and SUDEP-like events. We further unveil a key role of Depdc5 in shaping dendrite and spine morphology of excitatory neurons. This study reveals promising therapeutic avenues for treating drug-resistant focal epilepsies with mTORC1-targeting molecules.
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“In some individuals, a second genetic hit with a combination of both somatic and germline mutations in the same gene or genes in related pathways (eg.mTOR pathway) is identified 124 .”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [124]
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“MCD, including FCD, may be associated with a pathogenic germline or somatic variant, which may show a mutation gradient in resected brain tissue.”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [124]
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Self-citation
Metadata
- Authors
- Ribierre, T., Deleuze, C., Bacq, A., Baldassari, S., Marsan, E., Chipaux, M., Muraca, G., Roussel, D., Navarro, V., Leguern, E., Miles, R., & Baulac, S.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Fondation de Rothschild (FR)
- Corresponding author
- Baulac, Stéphanie
- ORCID
- Venue
- Journal of Clinical Investigation
- Published
- 2018-04-30
- Volume
- 128
- Issue
- 6
- Pages
- 2452-2458
- ISSN
- 0021-9738 (ISSN-L)
- 1558-8238
- PMC
- PMC5983335
- OpenAlex
- W2802211669
- Cited by
- 241
- References
- 28
- Citations by year
- 2026: 17 · 2025: 28 · 2024: 30 · 2023: 37 · 2022: 27 · 2021: 38 · 2020: 27 · 2019: 26 · 2018: 10
- FWCI
- 19.73
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- Funders
- European Research Council (No 322721, No 682345)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
- Health Sciences › Medicine › Genetics (clinical) › Tuberous Sclerosis Complex Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- DEPDC5, mTORC1, focal cortical dysplasia, focal epilepsy, second-hit mutations, somatic mosaicism, sudden unexpected death in epilepsy, amino acid sensing, seizure onset zone, excitatory neurons, drug-resistant epilepsy
- MeSH terms
- Mechanistic Target of Rapamycin Complex 1, Animals, Dendrites, Epilepsies, Partial, Female, Humans, Male, Mice, Mutant Strains, Neurons, Repressor Proteins, Spine, Germ-Line Mutation, GTPase-Activating Proteins, Mice, Malformations of Cortical Development, CRISPR-Cas Systems
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