Modulation of GABAergic dysfunction due to SCN1A mutation linked to Hippocampal Sclerosis. Issue 9 (5th August 2020)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: Annals of clinical and translational neurology. Volume 7:Issue 9(2020)
• Page Start: 1726
• Page End: 1731
• Publication Date: 2020-08-05
• Subjects: Nervous system -- Diseases -- Periodicals; Neurology -- Periodicals; 616.8005
• DOI: 10.1002/acn3.51150
• Languages: English
• ISSNs: 2328-9503

Abstract

Abstract: 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 NaV 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.