DOAJ Open Access 2024

Multifocal drug-resistant epilepsy in a patient with a newly discovered mutation in tuberous sclerosis complex 1 gene treated by deep brain stimulation in the anterior thalamic nucleus

Michał Sobstyl Paweł Jezierski Magdalena Konopko Angelika Stapińska-Syniec

Abstrak

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the tumor suppressor genes TSC1 or TSC2. TSC is characterized by the formation of multiple tumors in various organs. The most common neurological manifestation of the disorder is epilepsy present in 79–90% of cases. At least one-third of TSC patients develop drug-resistant epilepsy (DRE) which remains a great challenge for clinicians. Neuromodulation is an option in cases of multifocal epilepsy, epilepsy originating in eloquent areas, or the inability to identify the ictal onset zone. Deep brain stimulation of the anterior thalamic nucleus (ANT-DBS) may be used in the treatment of multifocal DRE. Here, we present a case of a patient with multifocal DRE caused by TSC, who was treated with ANT-DBS. A follow-up period of eight months showed that the patient's multifocal DRE was successfully treated by ANT-DBS.

Topik & Kata Kunci

Neurology. Diseases of the nervous system Neurophysiology and neuropsychology

Penulis (4)

Michał Sobstyl

Paweł Jezierski

Magdalena Konopko

Angelika Stapińska-Syniec

Format Sitasi

APA MLA BibTeX

Sobstyl, M., Jezierski, P., Konopko, M., Stapińska-Syniec, A. (2024). Multifocal drug-resistant epilepsy in a patient with a newly discovered mutation in tuberous sclerosis complex 1 gene treated by deep brain stimulation in the anterior thalamic nucleus. https://doi.org/10.1016/j.ebr.2023.100637

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Informasi Jurnal

Tahun Terbit: 2024
Sumber Database: DOAJ
DOI: 10.1016/j.ebr.2023.100637
Akses: Open Access ✓