作者
Gabriele Ruffolo, Pierangelo Cifelli, Cristina Roseti, Maria Thom, Erwin A van Vliet, Cristina Limatola, Eleonora Aronica, Eleonora Palma
发表日期
2018/11
期刊
Epilepsia
卷号
59
期号
11
页码范围
2106-2117
简介
Objective
Dravet syndrome is a rare neurodevelopmental disease, characterized by general cognitive impairment and severe refractory seizures. The majority of patients carry the gene mutation SCN1A, leading to a defective sodium channel that contributes to pathogenic brain excitability. A γ‐aminobutyric acid (GABAergic) impairment, as in other neurodevelopmental diseases, has been proposed as an additional mechanism, suggesting that seizures could be alleviated by GABAergic therapies. However, up to now the physiological mechanisms underlying the GABAergic dysfunction in Dravet syndrome are still unknown due to the scarce availability of this brain tissue. Here we studied, for the first time, human GABAA‐evoked currents using cortical brain tissue from Dravet syndrome patients.
Methods
We transplanted in Xenopus oocytes cell membranes obtained from brain tissues of autopsies of Dravet …
引用总数
2019202020212022202320241181016117
学术搜索中的文章
G Ruffolo, P Cifelli, C Roseti, M Thom, EA van Vliet… - Epilepsia, 2018