Seizure

Infantile epileptic spasms syndrome (IESS), also known as West syndrome (WS), is one of the most common forms of epileptic encephalopathies occurring in infancy. IESS is characterized by epileptic spasms typically occurring in clusters, hypsarrhythmia on electroencephalogram (EEG), and developmental stagnation or regression. Structural brain abnormalities are occasionally evident, including acquired or congenital lesions, and genetic etiologies are also common, including trisomy 21, and mutations in ARX, CDKL5, STXBP1, IQSEC2, TSC1, and TSC2 [1].

Infantile epileptic spasm syndrome (IESS) is the commonest developmental and epileptic encephalopathy of infancy with an average prevalence of 30 per 100,000. [1] It is associated with refractoriness to drugs, devastating developmental consequences and high-mortality. Mortality reached 31% each in a cohort of 214 children followed up for 20 to 35 years and 162 patients followed up for 60 months. [2,3] Sillanpaa and Riikonen have reported that 25 % died during a follow up spanning 17.2 years. [4] There are ...

The COVID-19 pandemic has presented an unprecedented challenge to global public health, causing millions of deaths around the world, and potentially resulting in lasting health problems for some people who have survived infection. The first positive case of COVID-19 infection in Scotland was identified on 1st March 2020, with the first death of a patient with COVID-19 occurring on 13th March. [1] The rapid rise in infection rate and hospital admission resulted in a period of national lockdown which started ...

Epilepsy is one of the most common neurological disorders in children and can have negative consequences on children’s health-related quality of life (HRQOL). Epilepsy surgery is the recommended treatment for focal drug-resistant epilepsy (DRE) [1] and has been shown to improve seizure control in children with DRE [2]. HRQOL is defined by the World Health Organization (WHO) as a broad, multidimensional construct including not only the disease state but also the person’s physical, psychological, and social well-being [3] .

Epilepsy affects about 70 million individuals globally, the majority of whom reside in developing countries. The estimated prevalence of epilepsy in Africa is as high as 15 per 1000[1], a figure that is about three times higher than the prevalence of epilepsy in the industrialized world[2]. Epilepsy, if not treated, is associated with excess deaths and significant morbidity in the form of burns, injuries and stigma[3]. In Sudan, epilepsy causes an increase in both death and disability-adjusted life years[4].

Epileptic seizures (ES) are due to transient electrical disturbances in neurons that lead to synchronous discharges. Functional or dissociative seizures (FDS) result in motor, sensory, and behavioral manifestations that are similar to ES, but there are no abnormalities detected on the electroencephalogram (EEG) [1]. FDS are associated with a history of psychological distress, particularly in individuals with a history of trauma/abuse [1–4]. FDS occur in 20-40% of patients admitted to the epilepsy monitoring unit, 40% of patients in general neurology ...

In healthcare, medical information should ideally be assessed directly with the patient. However, sometimes this is impossible, for example, when assessing subjective data such as health-related quality of life of very young children or in patients with dementia or with major intellectual disability. This can also be challenging when assessing psychiatric diagnoses that require thorough interview. For such cases, information from a proxy respondents can be valuable[1]. This is particularly true in the case of Sudden Unexpected Death in Epilepsy ...

: Hippocampal Sclerosis (HS) may co-exist with temporal or extratemporal lesions (dual pathology) in children and is usually ipsilateral to the radiological lesion. Here were report three cases with extensive hemispheric cortical malformation and drug resistant epilepsy who had persistent seizures after functional hemispherectomy (FH) and developed contralateral HS after the surgery.

The diagnosis and management of suspected first seizures poses an important clinical challenge. A first seizure may signal the onset of new epilepsy, previously undiagnosed epilepsy, or a focal brain lesion. They may also represent important differentials such as psychogenic seizures. Following a single unprovoked seizure, the risk of recurrence is greatest in the first 3-6 months, prompting the development of national guidelines setting standards of care (1–3). The National Institute of Health and Care Excellence (NICE) have set recommendations ...

The NEXMIF gene (OMIM* 300524), residing on Xq13.3, encodes a neurite extension and migration factor (NEXMIF) protein. It is highly expressed in the cerebral cortex and plays vital roles in neurite outgrowth by regulating cell-cell adhesion[1]. Nexmif hemizygous knockout mice exhibited spontaneous seizures, autism-like behavior, and intellectual disability (ID)[2]. Previsouly, NEXMIF null variants were reported to be associated with X-linked intellectual developmental disorder 98 (XLID98, OMIM# 300912), a severe neurodevelopment disorder syndrome characterized by delayed psychomotor development, poor speech, behavioral ...