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Journal of Peptide Science : an Official Publication of the European Peptide Society|December 1, 2004
First chemical synthesis of a scorpion alpha-toxin affecting sodium channels: the Aah I toxin of Androctonus australis hectorSarrah M'Barek, Ziad Fajloun, Sandrine Cestèle, et al.
International Journal of Molecular Sciences|June 2, 2021
Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi PatientsValentina Alari, Paolo Scalmani, Paola Francesca Ajmone, et al.
Stem Cell Research|June 9, 2018
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitabilityValentina Alari, Silvia Russo, Benedetta Terragni, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 6, 2005
Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizuresMassimo Mantegazza, Antonio Gambardella, Raffaella Rusconi, et al.
Epilepsia|June 15, 2007
Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutationEleonora Colosimo, Antonio Gambardella, Massimo Mantegazza, et al.
Neuroscience|August 11, 2019
Hyperexcitability in Cultured Cortical Neuron Networks from the G93A-SOD1 Amyotrophic Lateral Sclerosis Model Mouse and its Molecular CorrelatesStefania Marcuzzo, Benedetta Terragni, Silvia Bonanno, et al.
Neurobiology of Disease|January 20, 2019
A two-hit story: Seizures and genetic mutation interaction sets phenotype severity in SCN1A epilepsiesAna Rita Salgueiro-Pereira, Fabrice Duprat, Paula A Pousinha, et al.
Epilepsia|September 23, 2025
Artificial intelligence-driven closed-loop devices in sudden unexpected death in epilepsy prediction and prevention: Insights from persons with epilepsy and caregiversJoão Ferreira, Miguel França, Mariana Cardoso Regalo, et al.
Neurology. Genetics|April 27, 2026
Elicited Repetitive Daily Blindness Associated With Gain-of-Function SCN1A Variants and Responsiveness to Sodium Channel BlockersSandrine Cestèle, Alexander James Harper, Sebastian Marra, et al.
BMC Systems Biology|February 26, 2017
Network topology of NaV1.7 mutations in sodium channel-related painful disordersDimos Kapetis, Jenny Sassone, Yang Yang, et al.
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