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.
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http://dx.doi.org/10.1016/j.ebr.2023.100637 | DOI Listing |
Pediatr Neurol
December 2024
Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah; Department of Pediatrics, Intermountain Healthcare, Salt Lake City, Utah.
Background: Responsive neurostimulation (RNS) is used off-label in pediatric patients with drug-resistant epilepsy (DRE). Our study aims to assess the safety and efficacy of RNS in pediatric and young adult patients with focal, multifocal, and generalized DRE.
Methods: All patients who underwent RNS implantation at Primary Children's Hospital in Salt Lake City, UT, between December 2017 and 2022.
Epilepsia Open
December 2024
Department of Neuroscience, Corewell Health, Grand Rapids, Michigan, USA.
Epilepsia
November 2024
Paediatric Neurology Department, University Hospitals Leuven, KU Leuven, Leuven, Belgium.
Childs Nerv Syst
November 2024
School of Medicine, New York Medical College, Valhalla, NY, USA.
Purpose: To assess responsive neurostimulation (RNS) efficacy in pediatric patients with drug-resistant epilepsy, comparing response (≥ 50% reduction in seizure frequency) rates between patients with two or fewer seizure foci and those with multifocal or generalized epilepsy. This study seeks to address the gap in knowledge regarding RNS effectiveness in pediatric populations.
Methods: A systematic review and meta-analysis included data from PubMed, Embase, and Web of Science through November 2023, including 17 retrospective studies and a case series of 24 patients from our practice for a total of 105 aggregated patients.
Epilepsia
September 2024
Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts, USA.
Objective: Although >30% of epilepsy patients have drug-resistant epilepsy (DRE), typically those with generalized or multifocal disease have not traditionally been considered surgical candidates. Responsive neurostimulation (RNS) of the centromedian (CM) region of the thalamus now appears to be a promising therapeutic option for this patient population. We present outcomes following CM RNS for 13 patients with idiopathic generalized epilepsy (IGE) and eight with multifocal onsets that rapidly generalize to bilateral tonic-clonic (focal to bilateral tonic-clonic [FBTC]) seizures.
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