Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy

OBJECTIVE: Somatic variants are a recognized cause of epilepsy-associated focal malformations of cortical development (MCD). We hypothesized that somatic variants may underlie a wider range of focal epilepsy, including non-lesional focal epilepsy (NLFE). Through genetic analysis of brain tissue, we...

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Publicado en:Ann Neurol
Autores principales: Winawer, Melodie R., Griffin, Nicole G., Samanamud, Jorge, Baugh, Evan H., Rathakrishnan, Dinesh, Ramalingam, Senthilmurugan, Zagzag, David, Schevon, Catherine A., Dugan, Patricia, Hegde, Manu, Sheth, Sameer A., McKhann, Guy M., Doyle, Werner K., Grant, Gerald A., Porter, Brenda E., Mikati, Mohamad A., Muh, Carrie R., Malone, Colin D., Bergin, Ann Marie R., Peters, Jurriaan M., McBrian, Danielle K., Pack, Alison M., Akman, Cigdem I., LaCoursiere, Christopher M., Keever, Katherine M., Madsen, Joseph R., Yang, Edward, Lidov, Hart G.W., Shain, Catherine, Allen, Andrew S., Canoll, Peter, Crino, Peter B., Poduri, Annapurna H., Heinzen, Erin L.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2018
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6105543/
https://ncbi.nlm.nih.gov/pubmed/29679388
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.25243
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