| Autor: |
Burd SG; Federal Center of Brain Research and Neurotechnologies, Moscow, Russia.; Pirogov Russian National Research Medical University, Moscow, Russia., Lebedeva AV; Pirogov Russian National Research Medical University, Moscow, Russia., Rubleva YV; Federal Center of Brain Research and Neurotechnologies, Moscow, Russia., Pantina NV; Federal Center of Brain Research and Neurotechnologies, Moscow, Russia., Yurchenko AV; Federal Center of Brain Research and Neurotechnologies, Moscow, Russia., Bogomazova MA; Federal Center of Brain Research and Neurotechnologies, Moscow, Russia., Kovaleva II; Federal Center of Brain Research and Neurotechnologies, Moscow, Russia., Karchevskaya AE; Federal Center of Brain Research and Neurotechnologies, Moscow, Russia. |
| Jazyk: |
ruština |
| Zdroj: |
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova [Zh Nevrol Psikhiatr Im S S Korsakova] 2023; Vol. 123 (1), pp. 28-33. |
| DOI: |
10.17116/jnevro202312301128 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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