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Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutation

Dravet Syndrome (DS) is an encephalopathy with epilepsy associated with multiple neuropsychiatric comorbidities. In up to 90% of cases, it is caused by functional happloinsufficiency of the SCN1A gene, which encodes the alpha subunit of a voltage-dependent sodium channel (Nav1.1). Preclinical develo...

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Detalles Bibliográficos
Autores principales: Ricobaraza, Ana, Mora-Jimenez, Lucia, Puerta, Elena, Sanchez-Carpintero, Rocio, Mingorance, Ana, Artieda, Julio, Nicolas, Maria Jesus, Besne, Guillermo, Bunuales, Maria, Gonzalez-Aparicio, Manuela, Sola-Sevilla, Noemi, Valencia, Miguel, Hernandez-Alcoceba, Ruben
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6775062/
https://www.ncbi.nlm.nih.gov/pubmed/31578435
http://dx.doi.org/10.1038/s41598-019-50627-w