期刊
JOURNAL OF CLINICAL INVESTIGATION
卷 128, 期 6, 页码 2194-2196出版社
AMER SOC CLINICAL INVESTIGATION INC
DOI: 10.1172/JCI121052
关键词
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资金
- National Institute of Neurological Disorders and Stroke (NINDS) [1R01NS08916]
- National Institute of Mental Health [1R01MH114858, 1R01MH112714]
- Nancy Lurie Marks Family Foundation
- Landreth Foundation
- Autism Speaks/National Alliance for Autism Research
- Simons Foundation
- NINDS P30 Core Center grant [NS07203]
- Boston Children's Hospital Intellectual and Developmental Disabilities Research Center (IDDRC) [1U54HD090255, P30HD18655]
Loss-of-function mutations in a single allele of the gene encoding DEP domain-containing 5 protein (DEPDC5) are commonly linked to familial focal epilepsy with variable foci; however, a subset of patients presents with focal cortical dysplasia that is proposed to result from a second-hit somatic mutation. In this issue of the JCI, Ribierre and colleagues provide several lines of evidence to support second-hit DEPDC5 mutations in this disorder. Moreover, the authors use in vivo, in utero electroporation combined with CRISPR-Cas9 technology to generate a murine model of the disease that recapitulates human manifestations, including cortical dysplasia-like changes, focal seizures, and sudden unexpected death. This study provides important insights into familial focal epilepsy and provides a preclinical model for evaluating potential therapies.
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