Seizure

The DNM1L (dynamin 1-like) gene encodes for the DRP1 protein, essential for mitochondrial fission and normal dynamics [1]. DRP1 impairment is associated with neurological disorders related to de novo dominant or compound heterozygous DNM1L mutations. Symptoms and severity vary, and some cases may not have clinical or biochemical evidence of mitochondrial dysfunction [2], and sudden onset of encephalopathy and seizures in otherwise healthy children can be misdiagnosed as immune-mediated disorders [3].

Recent advances in the treatment of brain disorders have resulted in a notable decline in mortality rates. Although this is encouraging, the number of survivors at risk for seizures has consequently increased. Seizure management in acute clinical settings poses a significant challenge, particularly in patients who are unable to take oral medications because of impaired consciousness, perioperative conditions, or critical illnesses. Furthermore, acute symptomatic seizures are associated with an increased short-term mortality rate [1–3], highlighting the crucial need to both ...

Seizures account for 3% of emergency department (ED) attendances in the UK, totaling 100,000 annually [1]. This results in 40,000 hospital admissions, which costs the NHS £88.2 million per year, and makes up almost 50% of unscheduled admissions for neurological conditions [1,2]. Reattendance rates to ED in people with seizures are high; some suggest that up to 25% of those who attend ED present more than once per year [3,4]. Repeat ED visits for seizures significantly impact an individual’s quality ...

Patients with epilepsy (PWE) experience recurrent seizures that present ongoing medical challenges and disrupt daily life [1]. The unpredictable nature of seizures also imposes significant physical and emotional stress on both patients and their caregivers [2]. Effective seizure management is therefore essential, as frequent seizures are associated with reduced quality of life and increased reliance on emergency medical services [3,4]. This challenge is especially important, as recurrent seizures place a considerable burden on emergency care systems and contribute to elevated ...

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder often accompanied by neuropsychiatric symptoms, including epilepsy and cognitive impairments. While the cognitive impact of epilepsy in TSC is well documented in children, there is a paucity of studies examining neuropsychological functioning in high-functioning adults, particularly in relation to epilepsy status.

Epilepsy is one of the most common neurologic diseases and affects millions worldwide including over 2 million Americans [1,2]. Fortunately, approximately two-thirds of patients with epilepsy have long-term seizure remission with initial anti-seizure medications (ASMs) [3]. The remaining third suffer most of the morbidity and mortality associated with epilepsy. For these patients, ASMs offer little benefit, leaving them vulnerable to progressive cognitive decline and elevated mortality [4]. Disease-modifying therapies are needed.

Succinic semialdehyde dehydrogenase deficiency (SSADHD) (OMIM #271980) is a rare metabolic disorder resulting from bi-allelic pathogenic variants of the ALDH5A1 gene. SSADHD alters γ-aminobutyric acid (GABA) degradation, leading to accumulation of GABA and related metabolites, including γ-hydroxybutyrate (GHB) [1,2].

A 13-year-3-month-old boy, born to parents with no history of febrile convulsions or epilepsy, had typical early development until age four, when myoclonic jerks of the eyelids began. These episodes were initially mistaken for tics, but after six months of further testing, their true nature was identified. The interictal EEG showed a positive eye closure effect and a photo-paroxysmal response. Ictal EEG revealed bursts of poly-spikes and poly-spike-spike complexes at 3-5Hz, lasting 2-6 seconds, often irregular and fragmented, mostly over ...

Epilepsy is a widespread and complex disease that affects more than 70 million people worldwide [1]. Focal seizures are the most prevalent type, affecting up to 60% of people with epilepsy (PWE) [2]. The International League Against Epilepsy (ILAE) defines drug-resistant epilepsy (DRE) as the failure of two appropriate anti-seizure medication trials [3]. Despite optimal pharmacological treatment, the prevalence of DRE remains around 36% [4]. These patients should undergo evaluation for non-pharmacological treatment options.

Epilepsy is a diverse neurological disorder defined by the occurrence of recurrent unprovoked seizures, caused by abnormal, uncontrolled, and excessive electrical discharges in the brain [1–2]. Epilepsy-related pathophysiological processes such as excitotoxicity, oxidative damage and microglia-mediated inflammation have been linked to various neurodegenerative changes, including neuronal and axonal loss in brain areas primarily involved in the electrographic seizure activity [1]. Moreover, several antiepileptic drugs (AEDs) are known to have neurotoxic and retinotoxic effects [3–5].