Burd S G, Lebedeva A V, Rubleva Yu V, Pantina N V, Yurchenko A V, Bogomazova M A, Kovaleva I I, Karchevskaya A E
Federal Center of Brain Research and Neurotechnologies, Moscow, Russia.
Pirogov Russian National Research Medical University, Moscow, Russia.
Zh Nevrol Psikhiatr Im S S Korsakova. 2023;123(1):28-33. doi: 10.17116/jnevro202312301128.
Patients with epilepsy who have also hearing loss represent a distinct group of patients, often with aggravated medical history, comorbidities and high potential for disability. The etiopathogenetic factors of epilepsy and hearing loss may be common to these conditions (neuroinfections, craniocerebral injuries, cerebral circulatory disorders, perinatal pathology, etc.). In addition, these two syndromes may occur as part of hereditary diseases, so their timely recognition and genetic diagnosis are important for determining further medical and genetic prognosis. This article provides an overview of orphan genetic diseases associated with epilepsy and hearing loss - MERRF syndrome, MELAS syndrome, EAST syndrome, Ayme-Grippsyndrome, epilepsy, hearing loss and mental retardation syndromes, associated with mutations in SPATA5 gene, DOOR syndrome, Gustavson syndrome.
患有癫痫且伴有听力损失的患者构成了一个独特的患者群体，他们往往有更复杂的病史、合并症以及较高的致残可能性。癫痫和听力损失的病因学因素在这些病症中可能是共同的（神经感染、颅脑损伤、脑循环障碍、围产期病理等）。此外，这两种综合征可能作为遗传性疾病的一部分出现，因此它们的及时识别和基因诊断对于确定进一步的医学和遗传预后很重要。本文概述了与癫痫和听力损失相关的罕见遗传性疾病——肌阵挛性癫痫伴破碎红纤维综合征（MERRF综合征）、线粒体脑肌病伴乳酸血症和卒中样发作综合征（MELAS综合征）、癫痫、耳聋、共济失调综合征（EAST综合征）、艾梅-格里普综合征、与SPATA5基因突变相关的癫痫、听力损失和智力发育迟缓综合征、DOOR综合征、古斯塔夫森综合征。
