Seizure

FRMPD4 is expressed throughout the lifespan, including the fetal, juvenile, and adult stages. In humans, FRMPD4 is highly expressed in the brain [1]. FRMPD4 knockout in mice results in deficits in hippocampus-dependent spatial learning and memory, indicating that FRMPD4 is essential for the normal development of the central nervous system. However, little is known regarding the association between FRMPD4 and epilepsy.

Next generation sequencing (NGS) has allowed the discovery of a vast array of genetic contributors to epilepsy. Hoverer, most findings are limited to examining patients with epileptic encephalopathy and severe epileptic syndromes of childhood [1,2], or adults with epilepsy and intellectual disability [3]. Until recently, our understanding of the causal contribution of gene variants in focal epilepsy has been limited to rare monogenetic familial syndromes. However, the last decade has seen the expansion of genetic discovery, particularly in common focal ...

Epilepsy is one of the most prevalent and disabling chronic neurological diseases worldwide. Each year, 125,000 out of 60 million patients all over the world die due to epilepsy [1]. It is characterized by abnormal electrical activity leading to seizures or abnormal behavior and sensation, and sometimes loss of consciousness. It can lead to a series of neurological, cognitive, psychological, and social consequences. Epilepsy accounts for a large proportion of the deaths caused by diseases, as the risk of premature ...

For diagnosis and treatment, accurate counts of seizures are crucial. The gold standard to determine seizure type and count constitutes in-hospital monitoring by video and electroencephalography (EEG). However, this monitoring is resource intensive and costly, and only available in specialized medical facilities with limited capacity, often causing several months wait times, and for highest quality recordings often requires inpatient admission. In epilepsy outpatient monitoring, however, objective methods for seizure logging are missing or not being employed broadly.

Epilepsy is a common neurological disease with a high incidence in pediatrics[1]. Multiple anti-seizure medications (ASMs) have been developed for patients with epilepsy, however, in approximately 20% of pediatric patients, current treatment fails to adequately control their seizures[2]. Thus, novel ASMs must be developed for pediatric patients.

Vitamin B12 is one of the essential water-soluble vitamins which can produce clinical symptoms affecting various major organ systems [1]. Hematological and neurological manifestations are more common in patients with vitamin B12 deficiency [2]. While in adults and adolescents, vitamin B12 has been known to cause peripheral neuropathy, sub-acute combined degeneration of the cord and neuropsychiatric features as predominant neurological manifestations, in infants, especially in Indian subcontinent, infantile tremor syndrome (ITS) has also been etiologically linked to nutritional vitamin B12 deficiency ...

Epilepsy is a common neurological condition that affects people of all races, ages, and social classes.[1] The point prevalence of active epilepsy was estimated to be 6.4 per 1,000 persons (95% confidence interval [95% CI] 5.6-7.3) and its incidence rate was 61.4 per 100,000 person-years (95% CI 50.8-74.4).[2] These rates are higher in low- and middle-income nations compared with those in high-income countries.[2] The world population was estimated to be 8,021,424,000 people as of March 12, 2023.

The prevalence of epilepsy is 0.5 – 1 %, of which two-thirds are focal epilepsies. 30 – 50 % of those patients have drug resistant seizures, and many of them can profit from non-medical therapies, particularly epilepsy surgery. Accurate and reliable localization of the epileptogenic zone (EZ) is critical for the success of epilepsy surgery [1]. In an initial noninvasive diagnostic phase, patients with drug-resistant focal epilepsy are evaluated to identify the EZ. If these methods do not provide sufficient ...

First described in the 18th century, the clinical definition of ‘absence seizure’ has undergone frequent revisions to become the entity we are familiar with today [1]. In 1935, Gibbs and colleagues provided EEG description of a smooth and approximately sinusoidal shaped wave with a sharp negative spike allowing absence seizures to be differentiated from other seizure types associated with impairment of consciousness [2]. Further description of this spike-wave (SW) complex and its association with absence seizures was later provided by ...

Dyke-Davidoff-Masson syndrome (DDMS), or cerebral hemiatrophy, was first described in 1933 by Dyke, Davidoff and Masson [1]. It is a rare disease that occurs after brain injury and causes hypoplasia in one cerebral hemisphere [2]. The disease presents with different clinical degrees and can be characterised by epileptic seizures, contralateral hemiparesis or hemiplegia, intellectual disability, facial asymmetry, language and speech disorders, learning problems, contralateral choreic movements, sensory disorders, and unstable gait, among others [1,2,3].