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

Gabriele Ruffolo, Katiuscia Martinello, Angelo Labate, Pierangelo Cifelli, Sergio Fucile, Giancarlo Di Gennaro, Andrea Quattrone, Vincenzo Esposito, Cristina Limatola, Felice Giangaspero, Eleonora Aronica, Eleonora Palma, Antonio Gambardella

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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.

Original languageEnglish
JournalAnnals of Clinical and Translational Neurology
Publication statusE-pub ahead of print - Aug 5 2020


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