目的:在广泛的局灶性癫痫中发现了不均匀的EGL-10和含pleckstrin结构域的蛋白5(DEPDC5)突变,范围从皮质发育畸形引起的癫痫到非病灶性癫痫,包括睡眠相关的运动过度癫痫(SHE)。据报道,DEPDC5突变患者采用了一种手术方法,但这些病例大多有病变病因。
方法:我们描述了对耐药/非损害性SHE患者的立体EEG(SEEG)研究。筛选患者与SHE相关的已知突变。
结果:SEEG揭示了在右中央-前扣带皮质上普遍存在的双侧同步和独立活动,没有明确的空间定义的癫痫区。由于缺乏明确的癫痫发生区,手术是禁忌的。几年后,鉴定出DEPDC5突变。
结论:我们建议在对耐药非病灶性SHE患者进行SEEG研究之前,应考虑进行遗传分析。在清醒状态下癫痫发作和不清楚的解剖-电临床相关性的情况下。如果发现DEPDC5突变,术前评估应针对MRI阴性的局灶性皮质发育不良和广泛的致癫痫网络进行调整.遗传性非病灶性癫痫手术的适当管理和潜在益处尚未澄清。
OBJECTIVE: Dishevelled EGL-10 and pleckstrin domain-containing protein 5 (
DEPDC5) mutations are found in a wide spectrum of focal epilepsies ranging from epilepsy caused by malformation of cortical development to non-lesional epilepsy, including sleep-related hypermotor epilepsy (SHE). A surgical approach has been anecdotally reported in patients with
DEPDC5 mutations, but most of these cases had a lesional etiology.
METHODS: We describe a stereo-EEG (SEEG)
study in a patient with drug-resistant/non-lesional SHE. Patient was screened for known mutations associated with SHE.
RESULTS: SEEG disclosed bilateral synchronous and independent activity prevailing on the right central-anterior cingulate cortex, without a clear spatially defined epileptogenic zone. Due to the lack of a clear epileptogenic zone, surgery was contraindicated. Years later a
DEPDC5 mutation was identified.
CONCLUSIONS: We suggest that genetic analysis should be considered before performing SEEG
study in a patient with drug resistant non-lesional SHE, in the presence of seizures in wakefulness and unclear anatomo-electroclinical correlation. If DEPDC5 mutations are identified, the presurgical evaluation should be tailored to look for MRI-negative focal cortical dysplasia and a wide epileptogenic network. The appropriate management and potential benefit of surgery for genetic non-lesional epilepsy have yet to be clarified.