De Novo Truncating Mutation of TRIM8 Causes Early‐Onset Epileptic Encephalopathy
- 27 June 2016
- journal article
- case report
- Published by Wiley in Annals of Human Genetics
- Vol. 80 (4), 235-240
- https://doi.org/10.1111/ahg.12157
Abstract
This is the second case of EOEE caused by a de novo truncating mutation of TRIM8. Further studies are required to determine the functional roles of TRIM8 in the postnatal development of the human brain and its functional relationships with other EOEE-associated genes.Keywords
Funding Information
- Takeda Science Foundation
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