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

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

Mutations in <i>SCN1A</i> gene, encoding the voltage-gated sodium channel (VGSC) Na<sub>V</sub>1.1, are widely recognized as a leading cause of genetic febrile seizures (FS), due to the decrease in the Na<sup>+</sup> current density, mainly affecting the inhibitor...

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Bibliographic Details
Main Authors: Stefania Scalise, Clara Zannino, Valeria Lucchino, Michela Lo Conte, Luana Scaramuzzino, Pierangelo Cifelli, Tiziano D’Andrea, Katiuscia Martinello, Sergio Fucile, Eleonora Palma, Antonio Gambardella, Gabriele Ruffolo, Giovanni Cuda, Elvira Immacolata Parrotta
Format: Article
Language:English
Published: MDPI AG 2022-05-01
Series:Biomedicines
Subjects:
febrile seizure
induced pluripotent stem cells
mesial temporal lobe epilepsy
voltage gated sodium channel Na<sub>V</sub>1.1
disease model
Online Access:https://www.mdpi.com/2227-9059/10/5/1075

Internet

https://www.mdpi.com/2227-9059/10/5/1075

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