Epilepsy syndromes associated with hearing loss

Burd S.G.; Lebedeva A.V.; Rubleva Yu.V.; Pantina N.V.; Yurchenko A.V.; Bogomazova M.A.; Kovaleva I.I.; Karchevskaya A.E.

doi:https://doi.org/10.17116/jnevro202312301128

Burd S.G.

Pirogov Russian National Research Medical University;
Federal center of brain research and neurotechnologies

Lebedeva A.V.

Pirogov Russian National Research Medical University;
Scientific Research Institute of Healthcare Organization and Medical Managemen

SPIN RSCI: 3515-2408
Scopus AuthorID: 57193881028
ORCID: 0000-0001-8712-4775

Rubleva Yu.V.

Federal center of brain research and neurotechnologies

Pantina N.V.

Federal Center of Brain Research and Neurotechnologies

Yurchenko A.V.

Federal Center of Brain Research and Neurotechnologies

Bogomazova M.A.

Federal Center of Brain Research and Neurotechnologies

Kovaleva I.I.

Federal Center of Brain Research and Neurotechnologies

Karchevskaya A.E.

Federal Center of Brain Research and Neurotechnologies

Epilepsy syndromes associated with hearing loss

Authors:

Burd S.G., Lebedeva A.V., Rubleva Yu.V., Pantina N.V., Yurchenko A.V., Bogomazova M.A., Kovaleva I.I., Karchevskaya A.E.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2023;123(1): 28‑33

DOI: 10.17116/jnevro202312301128

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To cite this article:

Burd SG, Lebedeva AV, Rubleva YuV, et al. . Epilepsy syndromes associated with hearing loss. S.S. Korsakov Journal of Neurology and Psychiatry. 2023;123(1):28‑33. (In Russ.)
https://doi.org/10.17116/jnevro202312301128

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)

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Abstract:

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.

Keywords:

epilepsy

deafness

hearing loss

epilepsy syndromes

orphan diseases

Authors:

Burd S.G.

Pirogov Russian National Research Medical University;
Federal center of brain research and neurotechnologies

Lebedeva A.V.

Pirogov Russian National Research Medical University;
Scientific Research Institute of Healthcare Organization and Medical Managemen

SPIN RSCI: 3515-2408
Scopus AuthorID: 57193881028
ORCID: 0000-0001-8712-4775

Rubleva Yu.V.

Federal center of brain research and neurotechnologies

Pantina N.V.

Federal Center of Brain Research and Neurotechnologies

Yurchenko A.V.

Federal Center of Brain Research and Neurotechnologies

Bogomazova M.A.

Federal Center of Brain Research and Neurotechnologies

Kovaleva I.I.

Federal Center of Brain Research and Neurotechnologies

Karchevskaya A.E.

Federal Center of Brain Research and Neurotechnologies

Received:

19.08.2022

Accepted:

13.09.2022

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