2026-07-04 | Utility of repeat stereotactic EEG in pediatric patients with tuberous sclerosis.
Tuberous sclerosis complex (TSC) is a rare genetic disorder associated with early-onset drug-resistant epilepsy (DRE) secondary to intracranial tubers. Many patients undergo stereo-EEG (sEEG) for seizure onset localization, sometimes requiring multiple sEEGs and subsequent epilepsy surgeries. Our objective was to evaluate the effects of single versus multiple sEEGs on seizure outcomes in pediatric patients with TSC-associated DRE. Retrospective review of 45 pediatric TSC patients who underwent epilepsy surgery at our institution (2/2013-4/2026). Collected data included demographics, seizure history, number of sEEGs, surgical interventions, and outcomes. Primary outcomes were Engel scores after definitive epilepsy surgery. Among 34 identified TSC patients who underwent sEEG prior to surgery, 19 had one sEEG, 15 had two or more (mean ± SE: 2.4 ± 0.2, range: 2-5). 68% of single sEEG patients had one presumed seizure focus on phase I vEEG versus only 27% of multiple sEEG patients (p = 0.03). Phase I vEEG and MEG data were concordant in 67% of single sEEG patients and 91% of multiple sEEG patients. Single ictal focus epilepsy on vEEG was significantly associated with use of only single sEEG on logistic regression (p = 0.01). Patients with a single sEEG more often underwent laser ablation (53% vs. 27%), while those with multiple sEEGs more commonly underwent resective surgery (73% vs. 47%, p = 0.171). Four patients (20%) in the single sEEG group had additional treatment surgeries without repeat sEEG. At one-year and most recent (2.3 ± 0.4 vs. 2.8 ± 0.4 years) follow-up in patients who had at least 1 year of follow up after their most recent surgery (n = 24, 82%), favorable seizure outcomes (Engel I/II) were observed in 86% and 93% in single sEEG patients, and 64% and 79% in multiple sEEG patients (p > 0.99). TSC-associated DRE is often multifocal and challenging to treat, requiring sEEG for localization. Presurgical multifocal vEEG or MEG findings may predict need for repeat sEEG. While multifocal networks may necessitate additional sEEG evaluations and subsequent surgeries, favorable seizure outcomes can be achieved. Tuberous sclerosis complex (TSC) is a rare genetic condition that often causes difficult-to-control epilepsy in children. Some patients need a procedure called stereo-EEG (sEEG) to locate where seizures begin in the brain before surgery. We reviewed 34 children with TSC who underwent sEEG before epilepsy surgery. Children with a single seizure focus were more likely to need only one sEEG, while those with multiple seizure areas often required repeat sEEGs and additional surgeries. Despite more complex epilepsy, many patients still achieved good seizure control after treatment. These findings suggest that repeat sEEGs may help guide effective treatment in children with multifocal epilepsy.
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2026-06-18 | ENT1 inhibitor J4 restores cognitive function and white-matter integrity in a mouse model of tuberous sclerosis complex.
Tuberous sclerosis complex (TSC) is a hereditary disease caused by pathogenic mutations in the TSC1 or TSC2 genes, leading to overactivation of mTOR signaling and dysregulation of downstream pathways. The majority of individuals with TSC develop psychiatric and neurodevelopmental comorbidities-including intellectual disability, autism spectrum disorders, anxiety and other behavioral manifestations-collectively termed TSC-associated neuropsychiatric disorders. Over the past decade, increasing evidence from clinical and preclinical studies has highlighted a significant myelination deficit in the brains of TSC patients and animal models. Although mTOR inhibition can alleviate myelination defects and improve cognition in rodent models, clinical studies using the mTOR inhibitor, everolimus, has limited cognitive benefits in TSC individuals. Adenosine signaling has been recognized as a key player in oligodendrocyte maturation and myelin formation and may represent a promising target for therapeutic intervention. In the present study, we treated Tsc2+/- mice with J4, an equilibrative nucleoside transporter 1 inhibitor that has been demonstrated to increase adenosine level, and used diffusion MRI and relevant imaging modalities to assess its therapeutical effects on behavioral deficits and white matter defects in Tsc2+/- mice. We also analyzed the myelin ultrastructural changes using transmission electron microscopy and examined the expression oligodendrocytes- and myelination-associated proteins after the treatment. J4 treatment improved both cognitive deficits and anxiety-like behavior in Tsc2+/- mice, and ameliorated white matter abnormalities through enhancing myelin sheath integrity. We also demonstrated that J4 mitigates gray matter cytoskeletal disorganization, along with increased expression of key mature oligodendrocyte- and myelin-associated proteins. Furthermore, J4 significantly reduced the aberrant overexpression of pS6 and cFos, both of which are elevated in Tsc2+/- mice as a result of hyperactivation of mTOR and heightened neuronal activity. Altogether, these findings indicate that J4 modulates oligodendroglial lineage populations, enhances myelination, and improves neural connectivity by regulating neuronal hyperactivity. Our results suggest that J4 is a strong therapeutic candidate for addressing the neuropsychiatric manifestations of TSC.
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2026-05-31 | Long-term outcomes of selective arterial embolization in giant renal angiomyolipoma: A retrospective single-center study.
To evaluate the long-term outcomes of selective trans-arterial embolization (SAE) in patients with giant (⩾10 cm in size) renal angiomyolipomas (AMLs) at our tertiary referral center. This retrospective, single-center study included 44 patients who underwent SAE for AMLs of ⩾10 cm size between July 2018 and June 2024. Collected data included demographics, tumor characteristics, clinical symptoms, type of intervention, tumor size before and after embolization, and renal function. Outcomes assessed were tumor size reduction, preservation of renal function, reintervention rates during follow-up and complications following SAE. The study included 46 tumors in 44 patients. Mean patient age was 40.4 years (range: 23-60), with 86.3% being females. Mean follow-up duration was 25.2 months (range: 6-70 months). Eleven patients (25%) were associated with TSC, and all were offered Everolimus postoperatively. The mean tumor size decreased significantly from 13.2 ± 3.12 cm pre-embolization to 10.3 ± 2.45 cm post-embolization (p = 0.003). Renal function remained stable during follow-up, with no significant changes in serum creatinine (p = 0.6) and eGFR (p = 0.8). The overall success rate was 84.7%, with 13.6% experiencing re-intervention. Complications included post-embolization syndrome (43.1%) and allergic reactions (6.8%), while one patient required nephrectomy due to a perinephric abscess. Selective Trans-arterial Embolization is a safe and effective treatment for giant renal AMLs, resulting in significant tumor size reduction, symptom relief, and preservation of renal function. It offers a minimally invasive alternative to traditional surgical approaches, particularly for patients with high surgical risk or those requiring nephron-sparing procedure.
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