Hyperexcitability in Cultured Cortical Neuron Networks from the G93A-SOD1 Amyotrophic Lateral Sclerosis Model Mouse and its Molecular Correlates

Autor: Marcuzzo, Stefania, Terragni, Benedetta, Bonanno, Silvia, Isaia, Davide, Cavalcante, Paola, Cappelletti, Cristina, Ciusani, Emilio, Rizzo, Ambra, Regalia, Giulia, Yoshimura, Natsue, Ugolini, Giovanni Stefano, Rasponi, Marco, Bechi, Giulia, Mantegazza, Massimo, Mantegazza, Renato, Bernasconi, Pia, Minati, Ludovico

Publikováno v: In Neuroscience 15 September 2019 416:88-99

Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: Properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum

Autor: Cestèle, Sandrine, Bechi, Giulia, Rusconi, Raffaella, Cestele, Sandrine, Striano, Pasquale, Franceschetti, Silvana, Mantegazza, Massimo

Publikováno v: Neurobiology of Disease
Neurobiology of Disease, 2015, 75, pp.100-114. ⟨10.1016/j.nbd.2014.12.028⟩
Neurobiology of Disease, Elsevier, 2015, 75, pp.100-114. ⟨10.1016/j.nbd.2014.12.028⟩
Neurobiology of Disease, Vol 75, Iss, Pp 100-114 (2015)

Mutations of the voltage gated Na(+) channel Na(V)1.1 (SCN1A) are important causes of different genetic epilepsies and can also cause familial hemiplegic migraine (FHM-III). In previous studies, some rescuable epileptogenic folding defective mutants

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d97686996c42a50406ea83dc0de68dce
https://hal.science/hal-02352057

EPILESSIA E CANALI VOLTAGGIO DIPENDENTI DEL SODIO: MECCANISMI PATOGENETICI

Autor: BECHI, GIULIA

The SCN1A gene, coding for the isoform Nav1.1 of voltage gated sodium channels, is the main target of epileptogenic mutations. Mutations in this gene have been identified in about 80% of patients affected by Severe Myoclonic Epilepsy of Infancy (SMEI

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::118609387d5f5145ab09cb5dc93143b7

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Pure haploinsufficiency for Dravet syndrome NaV1.1 ( SCN1A) sodium channel truncating mutations.

Autor: Bechi, Giulia, Scalmani, Paolo, Schiavon, Emanuele, Rusconi, Raffaella, Franceschetti, Silvana, Mantegazza, Massimo

Publikováno v: Epilepsia (Series 4); Jan2012, Vol. 53 Issue 1, p87-100, 14p