Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

Abstract Focal cortical dysplasia (FCD) causes drug‐resistant epilepsy and is associated with pathogenic variants in mTOR pathway genes. How germline variants cause these focal lesions is unclear, however a germline + somatic “2‐hit” model is hypothesized. In a boy with drug‐resistant epilepsy, FCD,...

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Bibliographic Details
Main Authors: Wei Shern Lee, Sarah E. M. Stephenson, Katherine B. Howell, Kate Pope, Greta Gillies, Alison Wray, Wirginia Maixner, Simone A. Mandelstam, Samuel F. Berkovic, Ingrid E. Scheffer, Duncan MacGregor, Anthony Simon Harvey, Paul J. Lockhart, Richard J. Leventer
Format: Article
Language:English
Published: Wiley 2019-07-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.50815

Internet

https://doi.org/10.1002/acn3.50815

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