Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

AMPA-type glutamate receptors (AMPARs) are postsynaptic ionotropic receptors which mediate fast excitatory currents. AMPARs have a heterotetrameric structure, variably composed by the four subunits GluA1-4 which are encoded by genes GRIA1-4. Increasing evidence support the role of pathogenic variant...

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Detalles Bibliográficos
Autores principales: Rinaldi, Berardo, Ge, Yu-Han, Freri, Elena, Tucci, Arianna, Granata, Tiziana, Estienne, Margherita, Sun, Jia-Hui, Gérard, Bénédicte, Bayat, Allan, Efthymiou, Stephanie, Gervasini, Cristina, Shi, Yun Stone, Houlden, Henry, Marchisio, Paola, Milani, Donatella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8782781/
https://www.ncbi.nlm.nih.gov/pubmed/34731330
http://dx.doi.org/10.1007/s10048-021-00666-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8782781/
https://www.ncbi.nlm.nih.gov/pubmed/34731330
http://dx.doi.org/10.1007/s10048-021-00666-1

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