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 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 c...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-01-01
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| Series: | Epilepsy & Behavior Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2589986423000552 |
| _version_ | 1797281167688335360 |
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| author | Michał Sobstyl Paweł Jezierski Magdalena Konopko Angelika Stapińska-Syniec |
| author_facet | Michał Sobstyl Paweł Jezierski Magdalena Konopko Angelika Stapińska-Syniec |
| author_sort | Michał Sobstyl |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-07T16:52:43Z |
| format | Article |
| id | doaj.art-08599d7c31b143d99dc683a278dc3836 |
| institution | Directory Open Access Journal |
| issn | 2589-9864 |
| language | English |
| last_indexed | 2024-03-07T16:52:43Z |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Epilepsy & Behavior Reports |
| spelling | doaj.art-08599d7c31b143d99dc683a278dc38362024-03-03T04:30:04ZengElsevierEpilepsy & Behavior Reports2589-98642024-01-0125100637Multifocal 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 nucleusMichał Sobstyl0Paweł Jezierski1Magdalena Konopko2Angelika Stapińska-Syniec3Department of Neurosurgery, Institute of Psychiatry and Neurology, Sobieskiego 9 Street 02-957, Warsaw, Poland1st Department of Neurology, Institute of Psychiatry and Neurology, Sobieskiego 9 Street, 02-957 Warsaw, Poland1st Department of Neurology, Institute of Psychiatry and Neurology, Sobieskiego 9 Street, 02-957 Warsaw, PolandDepartment of Neurosurgery, Institute of Psychiatry and Neurology, Sobieskiego 9 Street 02-957, Warsaw, Poland; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S2589986423000552Multifocal drug-resistant epilepsyAnterior nucleus of the thalamusDeep brain stimulationTuberous sclerosis complex |
| spellingShingle | Michał Sobstyl Paweł Jezierski Magdalena Konopko Angelika Stapińska-Syniec 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 Epilepsy & Behavior Reports Multifocal drug-resistant epilepsy Anterior nucleus of the thalamus Deep brain stimulation Tuberous sclerosis complex |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | Multifocal drug-resistant epilepsy Anterior nucleus of the thalamus Deep brain stimulation Tuberous sclerosis complex |
| url | http://www.sciencedirect.com/science/article/pii/S2589986423000552 |
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