Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
复制标题
SCN1A 基因突变是否会导致 GEFS 中热性惊厥的发病年龄更早？
作者：
A. Sijben;P. Sithinamsuwan;Ashalata Radhakrishnan;R. Badawy;L. Dibbens;A. Mazarib;D. Lev;T. Lerman;R. Straussberg;S. Berkovic;I. Scheffer
SCN1A是临床上最相关的癫痫基因，与全身性癫痫和热性惊厥+（GEFS+）和Dravet综合征相关。我们推测，早期发作的热性惊厥（FS）和热性惊厥+（FS+）表型可能发生在SCN 1A突变的存在。这是因为年龄相关的Dravet综合征发作，通常在出生后的第一年开始。我们发现，FS和FS+伴SCN1A突变的患者的中位热性惊厥发作时间早于人群中位数。GABRG2突变患者的早期发病与SCN 1B突变患者的早期发病相似，而SCN 1B突变患者的发病较晚。这项研究首次证明了特定的遗传异常直接影响FS和FS+表型的发病年龄。
SCN1A is the most clinically relevant epilepsy gene and is associated with generalized epilepsy and febrile seizure plus (GEFS+) and Dravet syndrome. We postulated that earlier onset of febrile seizures in the febrile seizure (FS) and febrile seizure plus (FS+) phenotypes may occur in the presence of a SCN1A mutation. This was because of the age‐related onset of Dravet syndrome, which typically begins in the first year of life. We found that patients with FS and FS+ with SCN1A mutations had earlier median onset of febrile seizures compared to the population median. Patients with GABRG2 mutations had a similar early onset in contrast to patients with SCN1B mutations where onset was later. This study is the first to demonstrate that a specific genetic abnormality directly influences the FS and FS+ phenotype in terms of age of onset.
影响因子：
9.8
作者：
Escayg, A;Heils, A;Meisler, MH
通讯作者：
Meisler, MH
影响因子：
9.8
作者：
Wallace, RH;Scheffer, IE;Berkovic, SF
通讯作者：
Berkovic, SF