Accurate seizure documentation is essential in guiding treatment decisions in epilepsy but still heavily relies on highly subjective and sometimes unreliable patient reports. We report a case of medically refractory mesial temporal lobe epilepsy where subcutaneous EEG revealed persistence of seizures following add-on antiseizure medication despite the patient's self-report of seizure freedom. Thus, ultralong-term EEG subcutaneous monitoring provided valuable information on medical refractoriness and supported the decision to proceed to surgical intervention. Subcutaneous EEG monitoring was continued after resective surgery and has shown no further seizures to this date. To our knowledge, this is the first reported case utilizing subcutaneous EEG for objective seizure documentation both pre- and post-surgery.
Making the right treatment decisions depends on knowing the seizure frequency of a person with epilepsy, but patients' reports are often inaccurate. In our case, we describe a patient in which seizures were only detected because of a small electrode implanted under the skin to record brain activity (subcutaneous EEG). Based on this information, the patient received brain surgery, and the device was left in place after surgery, showing no further seizures. To our knowledge, this is the first reported case where this type of EEG device was used to track seizures both before and after epilepsy surgery.
Infantile epileptic spasms syndrome (IESS) and self-limited infantile epilepsy (SeLIE) are both genetically heterogeneous disorders during infancy with distinct prognoses. To better define the genetic spectrum of IESS, we performed a comparative genetic analysis using SeLIE cases as a reference group.
We performed whole-exome sequencing in a Chinese cohort comprising 54 parent–offspring trios with IESS and 37 trios or quartets with SeLIE.
Causal pathogenic or likely pathogenic variants were identified in 61% (56/92) of patients, distributed across 20 different genes. Among these, 10 (29%) variants were novel. A definitive genetic diagnosis was achieved in 37% (20/54) of IESS patients, involving 17 distinct genes, indicating a high degree of genetic heterogeneity. In contrast, SeLIE patients had a much higher diagnostic yield of 95% (36/38), with variants concentrated in only four genes. By comparing de novo mutations in protein-coding regions between the IESS and SeLIE cohorts, we identified both shared and potentially novel variants. Notably, there was a trend toward an increased burden of de novo loss-of-function variants in IESS compared to SeLIE. Among IESS patients, 51.9% (28/54) responded to initial hormonal therapy, while 38.9% (21/54) failed to respond.
These integrative genomic analyses provide new insights into the pathogenesis of IESS, underscoring a more complex and heterogeneous genetic landscape in IESS compared to SeLIE.
This study investigated the genetic architecture of two infantile epilepsy syndromes: IESS and SeLIE. We demonstrated that IESS has a more heterogeneous genetic background, whereas SeLIE is associated with more specific variants. These findings provide novel insights into the genetic underpinnings of IESS.
Febrile seizures (FS) are common and usually self-limited, yet a subset of children develop epilepsy. Early risk stratification remains challenging, particularly in resource-limited settings with limited access to long-term neurologic follow-up. We aimed to estimate the incidence and identify the most robust predictors of epilepsy following FS in children.
In this prospective cohort study at Children's Hospital 2 (Ho Chi Minh City, Vietnam), 631 children aged 1 month to 6 years with first FS were enrolled (March 2023–March 2024) and followed through July 2025. Children with any history of seizures prior to the index FS were excluded. Epilepsy was defined per the International League Against Epilepsy (ILAE) 2014 criteria. Predictor selection used clinical reasoning and Bayesian Model Averaging (BMA), followed by multivariable Cox regression. Discrimination was evaluated using Harrell's C-index and time-dependent AUC; internal validation was performed with bootstrap resampling.
Over a median follow-up of 2.0 years, 35 children (5.5%) developed epilepsy, corresponding to an incidence of 29 per 1000 person-years. After BMA, four independent predictors were retained: neurodevelopmental delay (HR = 8.78), family history of epilepsy (HR = 2.66), focal seizures (HR = 3.23), and each additional FS recurrence (HR = 1.50). The predictor set showed strong discrimination (C-index: 0.87; AUC at 24 months: 0.89 with 95% CI: 0.82, 0.95).
This parsimonious set of clinical predictors may support early counseling and targeted follow-up of children with FS, especially where pediatric neurology resources are limited. Model development and validation are ongoing.
We followed 631 children after their first febrile seizure to see who might later develop epilepsy. About 5.5% of children developed epilepsy within 2 years. Children with developmental delay, focal seizures, a family history of epilepsy, or repeated FS were at higher risk. Using these four simple factors may help doctors give families clearer advice and closer follow-up, especially where access to pediatric neurologists is limited.
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