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首页> 外文期刊>Clinical EEG and neuroscience: official journal of the EEG and Clinical Neuroscience Society (ENCS) >The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations
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The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations

机译：脂质蛋白缺陷中癫痫的特征和长期过程：与ECM1突变相关的轻度至严重癫痫发作的光谱

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摘要

Lipoid proteinosis (LP) is a rare autosomal recessive disease characterized by deposition of hyaline material in skin and mucosae. Epilepsy, as an extracutaneous manifestation associated with typical mesial temporal calcifications, has already been identified, but its characteristics and long-term prognosis have not been thoroughly investigated. We included 7 consecutive patients with LP with typical intracranial calcifications out of 16 patients with ECM1 mutations and investigated the semiologic features, ictal and interictal EEG findings, and long-term prognosis of epilepsy in this genodermatosis. Four of them had seizures (57.1%), and focal seizures with motionless staring were the most common seizure phenotype, originating from bilateral mesial temporal areas, but interictal spikes were scant. Auras were observed in three patients, mostly as epigastric sensation and deja vu, which indicated mesial temporal lobe origin. Three patients with homozygous mutations in sixth and seventh exons of the ECM1 gene had a drug-resistant course at the end of long-term follow-up. Molecular genetic testing showed a rare compound heterozygous mutation in one patient, which was also associated with seizures but without drug-resistance. Our findings indicated a spectrum for epilepsy with a desperate drug-resistant course for decades in most patients with LP, which is still an underrecognized disease by neurologists.
机译：脂蛋白蛋白质差（LP）是一种稀有的常染色体隐性疾病，其特征在于皮肤和粘膜中的透明材料沉积。作为与典型的歧视性时间钙相关的剥皮表现，已经确定了癫痫表现，但其特征和长期预后尚未得到彻底调查。我们将连续7例LP患者包含典型的颅内钙化，其中16名ECM1突变患者，并调查了这种Genodermatosis中的癫痫患者的初学特征，ICTAL和Intertical eeg结果。其中四个有癫痫发作（57.1％），局灶性癫痫发作是最常见的癫痫发作表型，源自双侧间隙颞型区域，但嵌入尖峰是狭窄的。在三名患者中观察到Auras，主要是作为昙花一现和Deja Vu，其指出了薄层颞叶来源。在长期随访结束时，患有第六和第七个和ECM1基因的第七个外显子的纯合突变的患者在抗药性课程。分子遗传学检测显示在一个患者中罕见的化合物杂合突变，其也与癫痫发作相关但没有耐药性。我们的研究结果表明，在大多数LP患者中，癫痫患者具有绝望的耐药课程的光谱，其仍然是神经病学家仍然是一种缺乏症状的疾病。

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