mTOR Pathway Mutations Cause Hemimegalencephaly and Focal Cortical Dysplasia

Focal malformations of cortical development, including focal cortical dysplasia (FCD) and hemimegalencephaly (HME), are important causes of intractable childhood epilepsy. Using targeted and exome sequencing on DNA from resected brain samples and non-brain samples from 53 patients with FCD or HME, w...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Ann Neurol
Autors principals: D'Gama, Alissa M., Geng, Ying, Couto, Javier A., Martin, Beth, Boyle, Evan A., LaCoursiere, Christopher M., Hossain, Amer, Hatem, Nicole E., Barry, Brenda, Kwiatkowski, David J., Vinters, Harry V., Barkovich, A. James, Shendure, Jay, Mathern, Gary W., Walsh, Christopher A., Poduri, Annapurna
Format: Artigo
Idioma:Inglês
Publicat: 2015
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4471336/
https://ncbi.nlm.nih.gov/pubmed/25599672
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24357
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars