Seizure

Electrographic monitoring is an important aspect of the management of epileptic seizures. This is particularly true in cases of status epilepticus, when continued seizure activity for more than five minutes, or recurrent events without recovery in between, are linked to a significant risk of cerebral damage [1,2], making the prevention of prolonged convulsion a priority. Those patients whose seizures are not terminated by initial therapies (benzodiazepines, rapid loading of anticonvulsant) require general anaesthesia and admission to critical care environment, and ...

Epilepsy is a common neurological disorder affecting 45.9 million individuals worldwide1. Sex is usually not considered a susceptibility factor for epilepsy, but differences in epilepsy incidence and prevalence between men and women have been reported2-6. It is slightly more prevalent in men (329.3 per 100.000 population) than in women (318.9 per 100.00 population)1. Men with epilepsy have higher disability-adjusted life-years rates (201.2 per 100.000 population) and higher mortality rates (2.09 per 100000) than women (163.6 per 100000 population and 1.4 ...

The DHDDS and NUS1 genes encode two subunits of cisPTase, an essential enzyme in the dolichol-dependent protein glycosylation pathway.(1) Variants in these genes are associated with developmental and epileptic encephalopathy (DEE)(2-4) and more recently progressive myoclonic epilepsy (PME).(1)

Neuroimaging provides an alternative for the visualisation of brain changes in patients with epilepsy in vivo [1, 2], but the neurobiological heterogeneity of the illness precludes clinical translations and genetic research of neuroimaging findings. In addition, treatments with medications, substance abuse, and varying illness durations may cause inconsistency across studies and limit the effectiveness of magnetic resonance imaging (MRI) data as biomarkers for individual identification and outcome prediction.

Ongoing research is investigating the feasibility of using a clinical decision tool to standardise the collection and interpretation of a person’s history of Transient Loss of Consciousness (Stiell and Bennett, 2007; Brignole et al., 2018; Wardrope, Newberry and Reuber, 2018). One such tool, a computer-analysed questionnaire including a series of yes/no questions about TLOC manifestations, questions about a person’s medical history, and some additional questions to observers (Reuber et al., 2016; Chen et al.

Dravet syndrome (DS) is an infantile-onset developmental and epileptic encephalopathy characterized by febrile seizures in the first year of life, followed by the appearance of afebrile seizures of varying semiologies which are almost always drug-resistant.1 Approximately 80-90% of patients have SCN1A pathogenic variants.2 EEG is typically normal at the time of first presentation, but various abnormalities may be seen later, including generalized or focal slowing, generalized spike-wave, and focal or multifocal spikes or spike-wave discharges.

2q24 deletion syndrome is characterized by severe epilepsy phenotypes, seizure onset during infancy, and developmental delays (1)(see supplementary reading list). It also includes head, facial, limb, and whole-body dysmorphic features, as well as cardiac structural abnormalities (e.g., hypoplastic left heart & atrial septal defects). Chromosome 2q24 encodes many proteins of the sodium channel family. 2q24 deletion syndrome has some overlap with Dravet Syndrome (DS), which is another severe developmental epileptic encephalopathy (DEE), in which the majority are due to mutations ...

Seizure semiology, the clinical phenomenon which occur during seizures, is the most effective way to identify the type of seizure in patients with epilepsy. Identifying the epilepsy type based on semiology and EEG abnormalities is crucial in diagnosing and choosing the appropriate therapy. Although epilepsies are traditionally divided into “focal” and “generalized”, epilepsy is conceptualized as a network disorder.1 Recent publications have reported focal features among patients with genetic generalized epilepsy (GGE) in the domains of semiology, electroencephalography, neuropsychology, neuropathology, ...

Lafora Disease is an autosomal recessive progressive myoclonus epilepsy with onset in teen age and death within 10 years. By age 20, patients are commonly debilitated with near-constant myoclonus associated with atypical absences interrupting every thought and spoken sentence, have significant cognitive decline and are wheelchair bound. The disease is caused by mutations in either the EPM2A gene encoding the laforin glycogen phosphatase or the EPM2B gene coding for the malin ubiquitin E3 ligase [1].

The ketogenic diet (KD), a high-fat, adequate protein, and low-carbohydrate diet, is one of the most effective alternative treatment options for children with medication-resistant epilepsy.1 Fat content of the diet provides up to 90% of calories. Thus, KD is not a simple dietary regulation, but a form of medical therapy that causes major changes in energy metabolism and therefore can cause many side effects such as constipation, kidney stones and dyslipidemia.2 Previous short-term studies reporting elevated blood lipids and adverse ...