Common genetic generalised epilepsy syndromes encountered by clinicians include childhood and juvenile absence epilepsies, juvenile myoclonic epilepsy and generalised tonic-clonic seizures on awakening. Treatment of these syndromes involves largely the use of broad-spectrum antiseizure drugs. Those effective for the generalised epilepsies include sodium valproate, phenobarbital, ethosuximide, clobazam, clonazepam, lamotrigine, levetiracetam, topiramate, zonisamide and, more recently, perampanel and brivaracetam. Results from the few rigorous studies comparing outcomes with drugs for genetic generalised epilepsies show valproate to be the most effective. The majority of patients with genetic generalised epilepsy syndromes will become seizure free on antiseizure monotherapy; those for whom control proves elusive may benefit from combination regimens. Early counselling regarding management may assist the patient to come to terms with their diagnosis and improve long-term outcomes. Treatment can be lifelong in some individuals, although others may remain seizure free without medication. Choice of antiseizure medication depends on the efficacy for specific seizure types, as well as tolerability. For patients prescribed comedication, drug interactions should be considered. In particular, for young women taking oral hormonal contraceptives, ≥ 200 mg/day of topiramate can decrease the circulating concentration of ethinylestradiol and ≥ 12 mg/day of perampanel can induce levonorgestrel metabolism. The use of valproate in women of childbearing potential is limited by associated teratogenic and neurodevelopmental effects in offspring. Given that valproate is often the antiseizure drug of choice for genetic generalised epilepsies, this creates a dilemma for patients and clinicians. Decision making can be aided by comprehensive assessment and discussion of treatment options. Psychiatric comorbidities are common in adolescents and adults with genetic generalised epilepsies. These worsen the prognosis, both in terms of seizure control and quality of life. Attendant lifestyle issues can impact significantly on the individual and society. Frontal lobe dysfunction, which can present in patients with juvenile myoclonic epilepsy, can adversely affect the long-term outlook, regardless of the nature of seizure control. Ongoing management requires consideration of psychosocial and behavioural factors that can complicate diagnosis and treatment. An assured supportive attitude by the neurologist can be an important contributor to a positive outcome. The mechanisms underlying genetic generalised epilepsies, including genetic abnormalities, are unclear at present. As the pathophysiology is unravelled, this may lead to the development of novel therapies and improved outcomes for patients with these syndromes.

中文翻译：

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青少年和成人遗传性全身癫痫的药理管理。

临床医生遇到的常见遗传性癫痫综合症包括儿童期和少年失神癫痫，少年肌阵挛性癫痫和苏醒时的全身性强直阵挛性癫痫发作。这些综合征的治疗主要涉及使用广谱抗癫痫药。对广泛性癫痫有效的那些药物包括丙戊酸钠，苯巴比妥，乙妥西米德，氯巴沙姆，氯硝西am，拉莫三嗪，左乙拉西坦，托吡酯，唑尼沙胺，以及最近的培南per和溴氰菊酯。少数严格的研究结果比较了遗传性癫痫与药物治疗的结果，表明丙戊酸盐是最有效的。遗传性全身性癫痫综合征的大多数患者在抗癫痫单药治疗后将无癫痫发作；那些控制力难以捉摸的人可能会从联合治疗中受益。有关管理的早期咨询可以帮助患者适应诊断并改善长期结果。在某些人中，治疗可能是终生的，尽管其他人无需药物即可保持无癫痫发作。抗癫痫药的选择取决于特定癫痫类型的功效以及耐受性。对于处方处方的患者，应考虑药物相互作用。特别是，对于服用口服激素避孕药的年轻女性，托吡酯≥200 mg /天可降低乙炔雌二醇的循环浓度，而perampanel≥12 mg /天可诱导左炔诺孕酮代谢。在具有生育能力的妇女中使用丙戊酸酯受到后代的相关致畸和神经发育作用的限制。鉴于丙戊酸酯通常是遗传性全身性癫痫病患者选择的抗癫痫药，这给患者和临床医生带来了难题。全面的评估和治疗方案的讨论有助于决策。精神疾病合并症在遗传性癫痫的青少年和成人中很常见。在癫痫发作控制和生活质量方面，这些都恶化了预后。服务员的生活方式问题会严重影响个人和社会。幼年性肌阵挛性癫痫患者中可能存在额叶功能障碍，无论癫痫发作控制的性质如何，都可能对长期前景产生不利影响。持续的管理需要考虑可能使诊断和治疗复杂化的社会心理和行为因素。神经科医生肯定的支持态度可能是积极成果的重要因素。目前尚不清楚遗传广泛性癫痫的潜在机制，包括遗传异常。由于病理生理学尚未阐明，这可能会导致开发新疗法并改善患有这些综合征的患者的预后。