Clinical application of trio-based whole-exome sequencing in idiopathic generalized epilepsy

Idiopathic generalized epilepsies (IGEs) are a common group of genetic generalized epilepsies, which account for 15% to 20% of all epilepsies [14]. It is characterized by generalized epileptic seizures, including absence, myoclonic, generalized tonic-clonic, and myoclonic-tonic-clonic seizures, generalized spike/polyspike-slow waves on EEG, and good prognosis with normal neurodevelopment. Generally, the IGEs comprise four syndromes, including childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures alone (GTCA) [12].

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Telemedicine for Individuals with epilepsy: a comprehensive guide by ILAE Telemedicine Task Force

Epilepsy is one of the most common chronic neurological disorders, with a prevalence of at least 7 to 9 per 1,000 people and an incidence of 67 per 100,000 people per year worldwide [1–3]. The global prevalence of epilepsy is highly variable in different regions of the world, implying that biological, environmental, and health resource-related factors contribute to this observation [4]. In addition, epilepsy is often associated with many somatic and psychiatric comorbidities, further impairing quality of life [5].

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Development of an Instrument for Measuring the Work Functioning of Persons with Epilepsy in Clinical Settings

Epilepsy is a very common health condition defined as a neurological disease and characterized mainly by the recurrence of epileptic seizures [1]. There are 50 million persons with epilepsy (PwE) in the world [2], of these 70% can control seizures using medicines [3]. However, 75% of PwE who live in low- and middle-income countries (LMICs) and more than half who live in Latin America and the Caribbean do not have access to appropriate treatments [3, 4]. Furthermore, epilepsy is responsible ...

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Epilepsy with myoclonic absence presenting with unilateral jerks: A case of 2q13 microdeletion syndrome

Epilepsy with myoclonic absence (EMA), which was originally depicted by Tassinari in 1969 and 1971, is now classified by the International League Against Epilepsy (ILAE) as a genetic generalised epilepsy syndrome of childhood. EMA is characterised by rhythmic jerks and tonic contractions with impaired consciousness accompanied by synchronous and symmetric 3 Hz spike-and-wave discharges. It is generally bilateral, but it must be differentiated from focal impaired awareness motor seizures when it is unilateral [1].

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Caregivers’ Experiences in the Management of Children with Epilepsy: A Systematic Synthesis of Qualitative Studies

Epilepsy is a chronic disease of the nervous system, and childhood is the prime age for its onset. In children, the incidence of epilepsy is the highest in the first year of life but decreases to adult levels by the age of 10 years [1]. Due to limited awareness among children, adults in the family generally look after the child after discharge from hospital. Primary responsibility for care generally falls to family members; that is, the informal caregiver. However, informal ...

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Taking action on climate change: testimonials and position statement from the International League Against Epilepsy Climate Change Commission

The release of the 2021 Intergovernmental Panel on Climate Change (IPCC) report makes clear that human activities have resulted in significant alterations in global climate. There is no doubt that climate change is upon us; chronic global warming has been punctuated by more frequent extreme weather events. Humanity will have to mitigate climate change and adapt to these changing conditions or face dire consequences. One under-appreciated aspect of this global crisis is its impact on healthcare, particularly people with epilepsy ...

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Admission neutrophil-to-lymphocyte ratio predicts length of hospitalization and need for ICU admission in adults with Status Epilepticus

Status epilepticus (SE) is a neurological emergency characterized by a high mortality and morbidity rate, and high healthcare costs associated [1]. Early seizure interruption, to prevent time-dependent neuronal damage, must be considered the primary goal of the treatment. The speed of intervention and the risk of long-term consequences depends mainly on the type of clinical presentation, roughly divided into convulsive status epilepticus and non-convulsive status epilepticus (NCSE) according to the presence or absence of prominent motor symptoms [2].

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Long-Term Full-Scale Intelligent Quotient Outcomes Following Pediatric and Childhood Epilepsy Surgery: A Systematic Review and Meta-Analysis

Cognitive measures are an important primary outcome of pediatric, adolescents, and childhood epilepsy surgery. The purpose of this systematic review and meta-analysis is to assess whether there are long-term alterations (≥ 5 years) in the Full-Scale Intelligence Quotient (FSIQ) of pediatric patients undergoing epilepsy surgery.

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Factors associated with illness representations in adults with epileptic and functional seizures: a systematic review

Epilepsy and Functional Neurological Disorder (FND)1 and are two causes of seizures. Epilepsy refers to a neurological disorder characterised by recurrent episodes of paroxysmal brain dysfunction due to sudden, abnormal neuronal discharge (epileptiform activity) [1]. Functional seizures are the seizure variant of FND, resembling epileptic seizures but thought to represent episodes of dissociation [2]. Both seizure disorders are common; epilepsy has an estimated international lifetime prevalence of 7.6 per 1000 people [3].

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Epilepsy of infancy with migrating focal seizures due to a novel homozygous mutation in KCNT1 gene: A case report

Epilepsy of infancy with migrating focal seizures (EIMFS) is an early infantile epileptic encephalopathy characterized by resistant focal seizures which migrate from one hemisphere to the other, developmental delay and acquired microcephaly. The signature electroencephalogram (EEG) shows multifocal epileptiform discharges with electrographic seizures restricted to a hemisphere that switches to the opposite side. EIMFS is a genetic disease and most cases are due to de novo mutation in the voltage-gated potassium channel subunit gene KCNT1 [1].

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