Seizure

Familial hyperlysinemia is a rare autosomal recessive disorder due to defects of the AASS (α-aminoadipate δ-semialdehyde synthase) gene, which encodes for a bifunctional enzyme. Two types of hyperlysinemia have been identified namely type 1, due to the deficit of the alfa-ketoglutarate activity, and type 2, due to the deficit of the saccharopine dehydrogenase activity. Methods: To better characterize the phenotypic spectrum of familial hyperlysinemia type 1, we conducted a systematic review of cases in the literature following PRISMA guidelines.

Epilepsy is an inherently dynamic disease and neuropsychology plays a key role in the formulation, monitoring and management of the condition. Teleneuropsychology provides an opportunity for neuropsychology to increase its accessibility, reach and efficiency, using focussed assessments to target epilepsy relevant domains at critical timepoints in the disease trajectory. Neuropsychologists working with epilepsy have, however, been comparatively slow to adopt telehealth methods. Here we review recent developments in teleneuropsychology, with particular reference to applications and considerations in Late Onset Epilepsy.

Epilepsy is one of the most common serious brain diseases, affecting more than 70 million people worldwide [1]. Self-limited epilepsy with centrotemporal spikes (SeLECTS) is the most prevalent type of idiopathic childhood epilepsy, accounting for about 15.7% of the cases of epilepsy in children [2,3]. SeLECTS related to some poor prognosis and may show irreversible cognitive deficits [4,5].

The aim of the present study was to review the current knowledge on the neuropathological spectrum of late onset epilepsies. Several terms including ‘neuropathology*’ AND ‘late onset epilepsy’ (LOE) combined with distinct neuropathological diagnostic terms were used to search PubMed until November 15, 2023. We report on the relevance of definitional aspects of LOE with implications for the diagnostic spectrum of epilepsies. The neuropathological spectrum in patients with LOE is described and includes vascular lesions, low-grade neuroepithelial neoplasms and focal ...

Surgical treatment for mesial temporal lobe epilepsy (TLE) is an effective and safe procedure for patients with drug-resistant seizures [1]. However, patients undergoing surgery face the risk of post-surgical sequelae. Among these, mood disorders may manifest in certain patients, adversely impacting their quality of life and necessitating targeted therapeutic interventions. [2].

Cerebral palsy is an umbrella term for motor impairments that share features of a non-progressive brain injury, acquired during the early stages of its development [1]. The motor impairment is often associated with visual and hearing deficits as well as epilepsy and intellectual disability [1-5]. To monitor prevalence rates, especially within subgroups, it was considered necessary to study large populations. Registers for cerebral palsy were therefore established. The Danish cerebral palsy Register include children born from 1950 [6] and the ...

Epileptic encephalopathies (EEs) are defined as conditions where the epileptic activity itself contributes to severe and progressive cognitive and behavioral impairments by the International League Against Epilepsy (ILAE).[1] With advances in biotechnology and bioinformatics tools, causative monogenic etiologies have been identified in 20-40% of pediatric patients with EEs through exome-wide genetic analyses.[2] Genetic pediatric EEs are grouped as diseases characterized by early-onset epilepsy with high levels of phenotypic heterogeneity and genotypic diversity.

Medications are the primary treatment option for epilepsy. Sodium valproate (VPA) is a broad-spectrum anti-seizure medication(ASM) that is effective for many types of seizures. Compared with other ASM, VPA is more effective and well tolerated. However, it can still cause adverse effects in clinical practice. Tremor is considered an adverse effects of VPA, with an incidence of 5–57% [1,2]. VPA is primarily metabolizsed in the liver, with glucuronidation and β-oxidation being the major metabolic pathways, while cytochrome(CYP)-mediated oxidation is a ...

The association of stroke and late-onset epilepsy (LOE) is discussed with special regard to its diagnosis, pathogenesis, and prevention. In addition to epidemiological data, including those from different age groups, the mechanisms for the development of acute symptomatic and remote symptomatic seizures are reviewed. The risk factors associated with seizures and post-stroke epilepsy (PSE) are considered, along with the methodological limitations of the study. For future research, the distinction between acute and remote symptomatic seizure before or after seven days ...

Children and adolescents with epilepsy (CAWE) are at a greater risk of disturbed sleep compared to children and adolescents without epilepsy (for a review see [45]). CAWE are also at an increased risk of functional difficulties, in the domains of cognition [33], academic performance [19], behaviour and mood [31,32], adaptive skills [40], and quality of life [34]. These sleep disturbances as well as functional difficulties experienced by CAWE are often attributed to similar factors, such as seizures, anti-seizure medication and ...