Modulation of GABAergic dysfunction due to SCN1A mutation linked to Hippocampal Sclerosis

We compared GABAergic function and neuronal excitability in the hippocampal tissue of seven sporadic MTLE patients with a patient carrying a SCN1A loss‐of‐function mutation. All had excellent outcome from anterior temporal lobectomy, and neuropathological study always showed characteristic hippocamp...

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Detalles Bibliográficos
Autores principales: Ruffolo, Gabriele, Martinello, Katiuscia, Labate, Angelo, Cifelli, Pierangelo, Fucile, Sergio, Di Gennaro, Giancarlo, Quattrone, Andrea, Esposito, Vincenzo, Limatola, Cristina, Giangaspero, Felice, Aronica, Eleonora, Palma, Eleonora, Gambardella, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7480916/
https://www.ncbi.nlm.nih.gov/pubmed/32761786
http://dx.doi.org/10.1002/acn3.51150
Descripción
Sumario:We compared GABAergic function and neuronal excitability in the hippocampal tissue of seven sporadic MTLE patients with a patient carrying a SCN1A loss‐of‐function mutation. All had excellent outcome from anterior temporal lobectomy, and neuropathological study always showed characteristic hippocampal sclerosis (Hs). Compared to MTLE patients, there was a more severe impairment of GABAergic transmission, due to the lower GABAergic activity related to the Na(V)1.1 loss‐of‐function, in addition to the typical GABA‐current rundown, a hallmark of sporadic MTLE. Our results give evidence that a pharmacological rescuing of the GABAergic dysfunction may represent a promising strategy for the treatment of these patients.

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