Human iPSC Modeling of Genetic Febrile Seizure Reveals Aberrant Molecular and Physiological Features Underlying an Impaired Neuronal Activity

Mutations in SCN1A gene, encoding the voltage-gated sodium channel (VGSC) Na(V)1.1, are widely recognized as a leading cause of genetic febrile seizures (FS), due to the decrease in the Na(+) current density, mainly affecting the inhibitory neuronal transmission. Here, we generated induced pluripote...

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Detalles Bibliográficos
Autores principales: Scalise, Stefania, Zannino, Clara, Lucchino, Valeria, Lo Conte, Michela, Scaramuzzino, Luana, Cifelli, Pierangelo, D’Andrea, Tiziano, Martinello, Katiuscia, Fucile, Sergio, Palma, Eleonora, Gambardella, Antonio, Ruffolo, Gabriele, Cuda, Giovanni, Parrotta, Elvira Immacolata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9138645/
https://www.ncbi.nlm.nih.gov/pubmed/35625812
http://dx.doi.org/10.3390/biomedicines10051075

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