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

•Tuberous sclerosis complex (TSC) is characterized by the formation of multiple tumors.•Epilepsy is present in 79–90% of cases.•One-third of TSC patients develop drug-resistant epilepsy (DRE).•Multifocal DRE in TSC may be successfully treated by ANT-DBS. Tuberous sclerosis complex (TSC) is an autoso...

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Veröffentlicht in:Epilepsy & behavior reports 2024-01, Vol.25, p.100637, Article 100637
Hauptverfasser: Sobstyl, Michał, Jezierski, Paweł, Konopko, Magdalena, Stapińska-Syniec, Angelika
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Sprache:eng
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Zusammenfassung:•Tuberous sclerosis complex (TSC) is characterized by the formation of multiple tumors.•Epilepsy is present in 79–90% of cases.•One-third of TSC patients develop drug-resistant epilepsy (DRE).•Multifocal DRE in TSC may be successfully treated by ANT-DBS. 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.
ISSN:2589-9864
2589-9864
DOI:10.1016/j.ebr.2023.100637