Camfield Peter, Camfield Carol
Department of Pediatrics, Dalhousie University and the IWK Health Centre, Halifax, Nova Scotia, Canada.
Epileptic Disord. 2015 Jun;17(2):124-33. doi: 10.1684/epd.2015.0737.
To review the literature about febrile seizures and GEFS plus with special emphasis on management and outcome. Selected literature review. Febrile seizures are the most common convulsive event in humans, occurring in 2-6% of the population. The aetiology is complex with strong evidence for a heterogeneous genetic predisposition interacting with fever of any cause, with certain viral infections having a greater effect. A large amount of literature has established that febrile seizures have no long-term consequences on cognition or behaviour. Unfortunately, about 40% of children with a first febrile seizure will have a recurrence. The strongest predictor of recurrence is age <14-16 months at the time of the first febrile seizure. Epilepsy follows febrile seizures in ∼3% cases, with the concepts of simple and complex febrile seizures providing relatively weak prediction. Very prolonged febrile seizures may lead to mesial temporal sclerosis and temporal lobe epilepsy although the degree of risk remains uncertain. Investigations beyond establishing the cause of the provoking fever are nearly always unnecessary. Treatment is mainly reassurance and there is some evidence that parents eventually "come to grips" with the fear that their children are dying during a febrile seizure. Antipyretic medications are remarkably ineffective to prevent recurrences. Daily and intermittent prophylactic medications are ineffective or have unacceptable side effects or risks. "Rescue" benzodiazepines may prevent prolonged recurrences for selected patients with a first prolonged febrile seizure although this has not been proven. Genetic epilepsy with febrile seizures plus (GEFS+) is a complex autosomal dominant disorder usually caused by mutations in SCN1A (a voltage-gated sodium channel). One third of patients have febrile seizures only; two thirds have a variety of epilepsy syndromes, both focal and generalized. Febrile seizures may distress parents but rarely have any long-term consequences. Reassurance is the only treatment for the vast majority. Identifying patients with GEFS plus may lead to further investigations and counselling.
回顾有关热性惊厥和热性惊厥附加症（GEFS+）的文献，特别强调其管理和预后。进行文献综述。热性惊厥是人类最常见的惊厥性事件，发生率为2%至6%。病因复杂，有充分证据表明存在异质性遗传易感性，与任何原因引起的发热相互作用，某些病毒感染影响更大。大量文献证实热性惊厥对认知或行为没有长期影响。不幸的是，约40%首次发生热性惊厥的儿童会复发。复发的最强预测因素是首次热性惊厥发生时年龄小于14至16个月。热性惊厥后癫痫的发生率约为3%，单纯性和复杂性热性惊厥的概念预测能力相对较弱。尽管风险程度尚不确定，但长时间的热性惊厥可能导致内侧颞叶硬化和颞叶癫痫。除了确定诱发发热的原因外，几乎总是不需要进行其他检查。治疗主要是给予安慰，有证据表明家长最终会“克服”孩子在热性惊厥期间死亡的恐惧。退烧药预防复发的效果非常差。每日和间歇性预防性用药无效或有不可接受的副作用或风险。“救援”苯二氮䓬类药物可能预防首次长时间热性惊厥的特定患者出现长时间复发，尽管这尚未得到证实。热性惊厥附加症（GEFS+）相关的遗传性癫痫是一种复杂的常染色体显性疾病，通常由SCN1A（一种电压门控钠通道）突变引起。三分之一的患者仅有热性惊厥；三分之二有多种癫痫综合征，包括局灶性和全身性。热性惊厥可能使家长感到困扰，但很少有任何长期后果。对绝大多数患者来说，安慰是唯一的治疗方法。识别出患有GEFS+的患者可能会导致进一步的检查和咨询。
