发育性和癫痫性脑病。

IF 76.9 1区 医学 Q1 MEDICINE, GENERAL & INTERNAL Nature Reviews Disease Primers Pub Date : 2024-09-05 DOI:10.1038/s41572-024-00546-6
Ingrid E Scheffer, Sameer Zuberi, Heather C Mefford, Renzo Guerrini, Amy McTague
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引用次数: 0

摘要

发育性和癫痫性脑病是最严重的一类癫痫,其特点是癫痫发作和频繁的癫痫样活动与发育迟缓或倒退有关。通常在婴儿期或儿童期发病,包括许多定义明确的癫痫综合征。患者有多种并发症,包括智力障碍、精神特征(如自闭症谱系障碍和行为问题)、运动和肌肉骨骼疾病、胃肠道和睡眠问题,死亡率也会升高。这些问题会随着年龄的增长而变化,患者终生都需要大量的支持,给父母、照顾者和社区带来沉重的心理负担。许多患者的病因可以确定,利用下一代测序技术,50% 以上的患者可以找到遗传原因。目前已确定 900 多个基因是发育性和癫痫性脑病的单基因病因,许多细胞成分和过程都与这些疾病的病理生理学有关,包括离子通道和转运体、突触蛋白、细胞信号和新陈代谢以及表观遗传调控。多基因风险评分分析表明,常见变异也会导致表型变异。综合管理包括抗癫痫治疗和多病护理,由癫痫综合征和病因决定。查明潜在病因有助于开发精准药物,改善这些毁灭性疾病患者的长期预后。
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Developmental and epileptic encephalopathies.

Developmental and epileptic encephalopathies, the most severe group of epilepsies, are characterized by seizures and frequent epileptiform activity associated with developmental slowing or regression. Onset typically occurs in infancy or childhood and includes many well-defined epilepsy syndromes. Patients have wide-ranging comorbidities including intellectual disability, psychiatric features, such as autism spectrum disorder and behavioural problems, movement and musculoskeletal disorders, gastrointestinal and sleep problems, together with an increased mortality rate. Problems change with age and patients require substantial support throughout life, placing a high psychosocial burden on parents, carers and the community. In many patients, the aetiology can be identified, and a genetic cause is found in >50% of patients using next-generation sequencing technologies. More than 900 genes have been identified as monogenic causes of developmental and epileptic encephalopathies and many cell components and processes have been implicated in their pathophysiology, including ion channels and transporters, synaptic proteins, cell signalling and metabolism and epigenetic regulation. Polygenic risk score analyses have shown that common variants also contribute to phenotypic variability. Holistic management, which encompasses antiseizure therapies and care for multimorbidities, is determined both by epilepsy syndrome and aetiology. Identification of the underlying aetiology enables the development of precision medicines to improve the long-term outcome of patients with these devastating diseases.

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来源期刊
Nature Reviews Disease Primers
Nature Reviews Disease Primers Medicine-General Medicine
CiteScore
76.70
自引率
0.20%
发文量
75
期刊介绍: Nature Reviews Disease Primers, a part of the Nature Reviews journal portfolio, features sections on epidemiology, mechanisms, diagnosis, management, and patient quality of life. The editorial team commissions top researchers — comprising basic scientists and clinical researchers — to write the Primers, which are designed for use by early career researchers, medical students and principal investigators. Each Primer concludes with an Outlook section, highlighting future research directions. Covered medical specialties include Cardiology, Dermatology, Ear, Nose and Throat, Emergency Medicine, Endocrinology, Gastroenterology, Genetic Conditions, Gynaecology and Obstetrics, Hepatology, Haematology, Infectious Diseases, Maxillofacial and Oral Medicine, Nephrology, Neurology, Nutrition, Oncology, Ophthalmology, Orthopaedics, Psychiatry, Respiratory Medicine, Rheumatology, Sleep Medicine, and Urology.
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