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

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, and a ge...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Lee, Wei Shern, Stephenson, Sarah E. M., Howell, Katherine B., Pope, Kate, Gillies, Greta, Wray, Alison, Maixner, Wirginia, Mandelstam, Simone A., Berkovic, Samuel F., Scheffer, Ingrid E., MacGregor, Duncan, Harvey, Anthony Simon, Lockhart, Paul J., Leventer, Richard J.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Brief Communications
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6649645/
https://ncbi.nlm.nih.gov/pubmed/31353856
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50815
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