Seizure

Blood oxygenation level-dependent (BOLD) resting-state functional magnetic resonance imaging (rs-fMRI) focuses on spontaneous/intrinsic fluctuations of BOLD signals in a low-frequency band (< 0.1 Hz), and intrinsic brain activity (IBA) plays a vital role in brain function [1]. A growing number of rs-fMRI-based IBA measurements have been proposed, such as the amplitude of low-frequency fluctuation (ALFF) [2], fractional ALFF (fALFF) [3], regional homogeneity (ReHo) [4], and degree centrality (DC) [5], voxel-mirrored homotopic connectivity (VMHC) [6], global signal correlation (GSCorr) [7].

Neurocysticercosis (NCC)—a parasitic CNS infection endemic to developing nations—has been called the leading global cause of acquired epilepsy yet remains understudied. It is currently unknown why a large proportion of patients develop recurrent seizures, often following the presentation of acute seizures. Furthermore, the presentation of NCC is heterogenous and the features that predispose to the development of an epileptogenic state remain uncertain. Perilesional factors (such as oedema and gliosis) have been implicated in NCC-related ictogenesis, but the effects of cystic ...

A 19-year-old man was born at term after an unremarkable pregnancy and had nearly normal psychomotor development, but he had a history of poor school performance with mild learning difficulties in elementary school. He had no family history of neurological disease. He had suffered from episodes of mild dizziness and gait disturbance for a few minutes monthly since 13 years of age, but no abnormalities were found on brain MRI at the age of 14 years (Supplementary Figure 1A). At ...

The efficacy of epilepsy surgery compared to medical therapy has been well established in children with drug-resistant epilepsy (DRE).[1–2] The American Academy of Neurology recommends epilepsy surgery for the treatment of focal DRE.[3] Several studies have demonstrated an increasing trend in pediatric epilepsy surgery in Europe,[4–7] and the U.S.[8] While this is encouraging, most of these studies were conducted prior to 2015.[6] A more recent study on epilepsy surgery for both adult and pediatric populations in the U.S.

Tuberous sclerosis complex (TSC) is an autosomal dominant, multi-expressed and multisystem disease with an estimated prevalence of 1:6,760-13,520 in livebirths, caused by mutations in TSC1 or TSC2 [1]. In nervous system, main abnormalities include neuronal migration, differentiation, and proliferation, contributing to typical brain tubers [1]. The typical neurological presentations include epilepsy (83.5%), intellectual disability (56.5%) and TSC-related neuropsychiatric disorders (83.2%) [2]. The most common neurologic manifestation is often drug-resistant epilepsy (DRE), causing severe morbidity and increased mortality [3].

Onchocerciasis is caused by the filarial parasite Onchocerca volvulus and is transmitted through bites of infective blackflies (Simulium spp.) [1]. Infection with O. volvulus can result in skin and eye disease and is mainly controlled with community-directed treatment with ivermectin (CDTi)[1]. Recent epidemiological studies strongly suggest that onchocerciasis may directly or indirectly induce seizures and epilepsy, known as onchocerciasis-associated epilepsy (OAE) [2–6]. OAE is a form of epilepsy that appears in onchocerciasis-endemic regions with high ongoing transmission.

Multimorbidity is the presence of multiple (≥2) chronic health conditions (MCCs) [1,2] in a person at the same time (glossary) [3,4]. It is one of the greatest challenges for health and social care systems globally and is now an emerging priority, due to its association with the ageing population, frailty, healthcare use and social care demands [2,5,6].

Epilepsy is a chronic neurological disorder, caused by excessive or abnormal neuronal discharges in the brain [1] that predisposes to recurrent seizures [2]. It is a common neurological condition, affecting approximately 600,000 people in the United Kingdom (UK) [3]. Epilepsy has a multifactorial aetiology, ranging from single gene mutations to a complex interplay between genetic and environmental factors [4], and overall heritability estimates of 32% have been reported in the literature [5]. The consequences of an epilepsy diagnosis reach far ...

The CNOT3 gene (OMIM #604910) has been linked to intellectual disability, speech delay, autism and dysmorphic facies. Till now, only 22 cases with CNOT3-related developmental disease have been reported. In this study, we present a pair of identical twins with developmental delays, ankylosing spondylitis and epilepsy due to de novo CNOT3 variants. Our report expands the phenotypic-genotypic spectrum of CNOT3-related disorders and emphasizes the role of CNOT3 as a cause of developmental epileptic encephalopathy.

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