Dravet syndrome: From electroclinical characteristics to molecular biology
Dravet syndrome: From electroclinical characteristics to molecular biology
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DOI：
10.1111/j.1528-1167.2009.02228.x
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发表时间：
2009-01-01
期刊：
影响因子：
5.6
通讯作者：
Arzimanoglou, Alexis
中科院分区：
文献类型：
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作者：
Arzimanoglou, Alexis
Dravet综合征的发病通常发生在第一年内，由发热引起的长时间、全身性或单侧阵挛性癫痫发作。在早期阶段，通常存在其他类型的难治性癫痫发作，包括肌阵挛性癫痫发作、非典型性失神和部分性癫痫发作。脑电图（EEG）检查结果不是特异性的，并且逐渐出现认知停止或恶化的迹象。相反，在成人中，肌阵挛性癫痫发作、非典型性失神和局灶性癫痫发作往往消失，而通常与局灶性成分相关的短强直阵挛性癫痫发作尤其在睡眠期间持续存在。对发烧的敏感性持续到成年期，虽然精神恶化发生在婴儿期，通常会使患者出现严重的精神障碍，但不会进一步恶化。与Dravet综合征和相关综合征相关的基因的鉴定暗示了此类癫痫病因的复杂性。识别SCN1A突变已成为一种有用的手段，以支持Dravet综合征的早期诊断，有益于咨询，并避免使用可能有不良反应的抗癫痫药物（AED）。然而，Dravet最初确定的癫痫发作类型和EEG模式的定义特征仍然是诊断的基础。
P>The onset of Dravet syndrome typically occurs within the first year, with prolonged, generalized, or unilateral clonic seizures triggered by fever. In the early stages, other types of refractory seizures usually present that include myoclonic seizures, atypical absences, and partial seizures. Electroencephalography (EEG) findings are not pathognomonic, and signs of cognitive arrest or deterioration progressively appear. In contrast, in adults, myoclonic seizures, atypical absences, and focal seizures tend to disappear, and short tonic-clonic seizures, often associating a focal component, persist particularly during sleep. The sensitivity to fever persists into adulthood, and although mental deterioration occurs in infancy, usually leaving patients with severe mental impairment, further deterioration does not occur. The identification of genes associated with Dravet syndrome and related syndromes hints at the complexity of the etiology of such epilepsies. Identifying SCN1A mutations has become useful as a means to support an early diagnosis of Dravet syndrome, to benefit counseling, and to avoid use of antiepileptic drugs (AEDs) that may have adverse effects. However, the defining characteristics of seizure type and EEG patterns initially identified by Dravet remain fundamental to diagnosis.