There has been growing evidence that perturbations in gut-microbiota-brain axis (GMBA) are involved in mechanisms of chronic sequelae of traumatic brain injury (TBI). This review discusses the connection between GMBA and post-traumatic epilepsy (PTE), the latter being a common outcome of TBI. The focus is on two aspects of post-TBI GMBA dysfunction that are relevant to epilepsy. First are impairments in intestinal permeability with subsequent translocation of gut bacteria into the bloodstream. Specifically, endotoxemia following TBI may have a serendipitous protective effect against PTE through lipopolysaccharide conditioning, which may be leveraged for the development of therapeutic interventions. Second are changes in microbial composition (i.e., dysbiosis). Here, the GMBA-PTE connection is explored from predictive biomarker perspective, whereby the risk of PTE can be stratified based on specific microbial profiles. Finally, microbiota transplantation is discussed both as a tool to examine the role of gut microbiota in PTE and as a prelude to novel approaches for PTE therapy and prevention.
To determine the incidence of later epilepsy in full-term infants with neonatal encephalopathy (NE) who undergo continuous electroencephalography (cEEG) monitoring in the neonatal period and to identify potential predictors of later epilepsy both in infants with and without electrographic neonatal seizures (ENS).
This was a retrospective observational study performed at Cork University Maternity Hospital, Cork, Ireland, between 2003 and 2019. All term infants with NE had a minimum of 2 h of cEEG monitoring in the neonatal period. ENS were identified via cEEG monitoring. Pediatric medical charts were reviewed to determine if epilepsy developed after the neonatal period and to determine potential predictors of epilepsy in infants both with and without ENS.
Two hundred and eighty infants were included. The overall incidence rate of epilepsy was 17.55 per 1000 person-years (95% CI: 10.91 to 28.23). In infants with ENS (n = 82), the incidence rate was 39.27 per 1000 person-years (95% CI: 22.30 to 69.16). In infants without ENS (n = 198), the incidence rate was 7.54 per 1000 person-years (95% CI: 3.14 to 18.12). The incidence rate was significantly higher in the ENS group compared to the non-ENS group (p-value = 0.002). Several potential predictors for the development of later epilepsy were identified including infants delivered vaginally, low Apgar scores at 1 and 5 min, severe HIE diagnosis, presence of ENS, a severely abnormal EEG background and an abnormal brain MRI.
Following NE, term infants are at risk of epilepsy with a significantly higher incidence rate in infants who experience ENS compared to those who did not. Close follow-up is required in both groups well into the childhood period.
This study aimed to determine the occurrence of epilepsy in children who were monitored for seizures in the newborn period. The occurrence of epilepsy was higher in infants who experienced seizures in the newborn period compared to those who did not. Several potential predictors of later epilepsy were identified in both groups of infants (those with and without seizures in the newborn period). Both groups of infants require close follow-up in childhood.
Creatine transporter deficiency (CRTR-D) is a rare X-linked inherited disease belonging to the group of cerebral creatine deficiency disorders. Major clinical features include developmental delay and epilepsy. To date, fewer than 200 individuals with CRTR-D have been reported. As a result, there is little evidence for effective treatment. Available therapies are creatine precursors, with a mild effect on disease progression. Concerning epilepsy, standard management is recommended and no specific anti-seizure medication (ASM) has been shown to be effective in refractory cases. We report the case of a 28-year-old male patient with CRTR-D and childhood-onset refractory epilepsy. He had an average of 10–20 focal motor seizures with impaired consciousness per month. He had tried several ASMs without significant improvement. Treatment with cannabidiol (CBD) and clobazam (CLB) in combination was added. The patient became seizure-free from the first week, and up to 1 year of follow-up. Behavioral improvement was also noted by his caregivers. No adverse effects were reported. Very few cases of CRTR-D with refractory epilepsy have been reported. This calls for more extensive research and suggests a possible role for CBD in cerebral creatine metabolism and transport and valuable option for future studies.
Creatine transporter deficiency (CRTR-D) is a rare genetic disorder causing mental, behavioral, and movement problems. More than half of patients also have seizures, but because there are fewer than 200 known cases, it is difficult to know the best treatment options. We present a 28-year-old man with CRTR-D who had severe developmental delays and frequent seizures since childhood, despite trying many medications. After starting cannabidiol and clobazam, he has been seizure-free for a year. Sharing this success might help other people with CRTR-D benefit from similar treatments.
Psychogenic non-epileptic seizures (PNES) mimic epileptic seizures without electroencephalographic correlation. Although classified as psychiatric disorders, their neurobiological or structural basis remains unclear. This study aimed to assess the prevalence and characteristics of MRI abnormalities in patients with PNES and those with comorbid epilepsy, compared to the general population, to enhance radiological evaluation and management.
We retrospectively identified patients with a definitive diagnosis of PNES, evaluated in the refractory epilepsy unit of our tertiary epilepsy center. Patients were classified into two groups according to their comorbidity with epilepsy (PNES and PNES+). The MRI findings were evaluated and classified by two radiologists, who reported the category of the findings, laterality, and location. The two groups were compared using the chi-square test, as well as the frequencies of findings in the general population extracted from the literature.
Forty-six patients fulfilled the inclusion criteria. Thirty females and 16 males. MRI findings were present in 25/35 (71.4%) patients in the PNES group and 9/11 (81.8%) In the PNES + group, showing statistically significant differences in the frequency of findings with the general population (8.4–28.1%).
MRI anomalies are common in PNES patients and even more prevalent in complex cases referred to epilepsy units, underscoring the necessity of correlating MRI findings with clinical-electrical patterns.
In this article, we observed a higher frequency of cerebral magnetic resonance findings in patients with psychogenic non-epileptic seizures than in the general population. We also observed a higher frequency of this pathology among women, as well as right cerebral hemisphere affections. The exposed findings suggest a potential structural basis of this pathology. This hypothesis requires confirmation with larger studies.
Glucose transporter type 1 deficiency syndrome (GLUT1DS) commonly presents with early-onset epilepsy that often resists conventional pharmacological treatment. Ketogenic diet therapy (KDT) is the preferred approach to address the underlying metabolic anomaly. However, a subset of GLUT1DS patients presents resistance to KDT, with the causes remaining elusive. This comprehensive literature review aims to explore the characteristics of KDT failure in GLUT1DS and identify risk factors within this population. Our goal is to improve counseling and prognostication for these patients. So, we conducted a comprehensive literature review on PubMed, focusing on studies documenting pediatric GLUT1DS patients with drug-resistant epilepsy unresponsive to KDT. We identified five cases of KDT failure in female GLUT1DS patients, aged 10 days to 13 years at diagnosis. Predominant seizure types were absence seizures, with a few cases of clonic, tonic, or myoclonic seizures. EEG consistently revealed 2–3.5 Hz generalized spike-and-wave discharges. Genetic investigations revealed point mutations and deletions in two cases each. Despite an in-depth search, no specific features were found to reliably distinguish KDT non-responders from responders, underscoring the need for further research. In cases of KDT ineffectiveness for seizure control in GLUT1DS patients, exploring alternative therapeutic strategies becomes imperative to managing symptoms while maintaining quality of life. Large-scale multicenter studies, facilitated through international collaborations like the European Network for Therapy in Rare Epilepsies (NETRE), hold promise in elucidating the complexities of this patient population and developing personalized therapeutic approaches.
Glucose transporter type 1 deficiency syndrome often causes difficult-to-treat epilepsy. The ketogenic diet works for many patients, but some do not respond. This review investigated cases of diet failure but could not identify common features among poor responders. Further research is needed to understand these cases and explore alternative treatments.
Since 2018, three new antiseizure medications (ASMs) received FDA approval for Dravet syndrome (DS) in the U.S: cannabidiol, stiripentol, and fenfluramine. Yet, the uptake of these ASMs in routine clinical practice is unknown. We use new ICD-10 codes for DS (implemented in 2020) to estimate ASM receipt in patients with DS. We analyzed the TriNetX Network, a real-time electronic health record-based dataset linked to prescription data encompassing all 50 states of the U.S. After identifying patients with health care encounters for DS in 2021 and 2022 (via ICD-10 codes), we examined ASM prescribing in the year following a DS claim: 2022 and 2023, respectively. We retrieved 387 and 451 patients receiving claims for DS in 2021 and 2022, respectively. Clobazam, diazepam, valproate, midazolam, clonazepam, levetiracetam, and cannabidiol were the most common ASMs used (29%–44%). Stiripentol and fenfluramine prescribing was limited (7%–16%); these two ASMs, considered second-line therapies in DS, were prescribed less often than ASMs considered third-line or beyond. Cannabidiol, stiripentol, and fenfluramine prescribing rates remained nearly identical in the 2021 and 2022 cohorts. Our data suggests that stiripentol, fenfluramine, and, to an extent, cannabidiol may be underused in a large, diverse, primarily U.S.-based population of patients with DS.
In an analysis of routinely-collected health care claims in the U.S., we found that the uptake of new antiseizure medications for Dravet Syndrome (i.e., stiripentol, fenfluramine, and cannabidiol) has been limited since 2022. Even though stiripentol and fenfluramine are considered second-line treatments for Dravet syndrome, we found they were prescribed less frequently than medicines considered third-line or beyond. These findings raise concern for underutilization of new antiseizure medications for Dravet syndrome in the United States.
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