PRRT2 variants and effectiveness of various antiepileptic drugs in self-limited familial infantile epilepsy

Self-limited familial infantile epilepsy (SFIE), formerly referred to as benign familial infantile seizures or benign familial infantile epilepsy [1, 2], is an epilepsy syndrome characterized by the onset of seizures in the infantile period at 3–12 months of age. The outcome of these seizures is usually benign, without affecting normal development and with no consequent cognitive impairment. The self-limited familial and non-familial forms of infantile epilepsy are identical except for the presence of a family history [3].The other main clinical ...

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Patients’ Explanatory Models about drug-resistant epilepsy in Argentina. A thematic analysis

Epilepsy is a neurological condition of high prevalence worldwide1. Cultural basis of epilepsy in different health-care systems had been studied2. For instance, Kleinman et al.3 claim that epilepsy is developed in a local context, where economic, moral, social and institutional factors affect the lived experience of seizures, their treatment, and their social consequences. Other authors4 point out that, in certain contexts, the social course of epilepsy can be “less benign”. The mythology about the origin and transmission of epilepsy involves ...

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Factors Associated with Patients Not Proceeding with Proposed Resective Epilepsy Surgery

In patients with drug-resistant epilepsy 1, surgery offers the only realistic hope of seizure freedom in appropriately selected patients 2–5. Despite low complication rates 3, high rates of seizure freedom 2, 5, significant improvement in the quality-of-life 6–8, and improvement in mortality due to reductions in seizure-related injury and sudden unexpected death in epilepsy 9, surgical treatment for epilepsy remains underutilized 3, 10. There are also significant disparities in patient access to surgery based on race and insurance coverage 11.

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Efficacy and safety of rufinamide as adjunctive therapy in patients with Lennox Gastaut syndrome: A systematic review and Meta-analysis.

Lennox–Gastaut syndrome is one of the childhood-onset epilepsy syndromes characterized by a triad of drug-resistant epilepsy with multiple seizure types, with a high seizure burden (predominantly tonic seizure, atonic seizure, atypical absence seizure, and myoclonic seizure), significant psychomotor retardation, and slow spike-wave pattern in electroencephalogram (EEG) [1]. Around 20% cases of LGS have a history of epileptic spasms and LGS constitutes 1-4% of all children with epilepsy [2]. No antiseizure medications (ASMs) have been proven to achieve complete seizure freedom ...

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Zonisamide safety in pregnancy: data from the UK and Ireland Epilepsy and Pregnancy Register

Zonisamide has been used in the management of epilepsy in Japan for three decades. After further controlled trials it was approved by the Federal Drug Administration for use in the United States in 2000, and by the European Medicines Agency as an adjunctive therapy for epilepsy in 2010, obtaining a monotherapy licence in 2012. More recently it has been adopted for use by headache specialists treating migraine [1]. It is a sulphonamide, and acts via a broad mechanism of action. ...

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Reflex seizures in Parry–Romberg Syndrome: 2 Case Reports

Parry-Romberg syndrome (PRS) is an infrequent, acquired disorder characterized by progressive hemiatrophy of the skin and soft tissue of the face [1]. PRS typically presents in children and young adults and slowly progresses over a highly variable course ranging from two to 20 years, eventually reaching a “burn-out phase” and stabilizing for no known reason. [1] Central nervous system (CNS) involvement is frequent among PRS patients, of which epilepsy is the most common cerebral manifestation. Reflex epilepsies (RE) are epileptic ...

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Circulating glutathione peroxidase and superoxide dismutase levels in patients with epilepsy: A meta-analysis

Glutathione-dependent peroxidases (GPxs) belong to a widespread family of proteins that has been discovered in almost all kingdoms of life [1,2]. GPxs have eight isoforms in mammals, and GPx1–4 in mice and humans and GPx6 in humans contain selenocysteine at their active sites and thus are categorized as selenoproteins [3,4]. Other GPxs are nonselenium glutathione peroxidases [5]. GSH-Px is a selenium-dependent enzyme that is expressed in the human brain and has an important role in the detoxification of reactive oxygen ...

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Theory of mind and its relationship with alexithymia and quality of life in patients with psychogenic nonepileptic seizures: Comparisons with generalised epilepsy and healthy controls

Psychogenic nonepileptic seizure (PNES) is a paroxysmal event characterised by alterations in motor and sensory experience that resemble epileptic seizures (ESs) but are unrelated to electrical discharge activity. PNES is classified under dissociative and conversion disorders in psychiatric nosology, with other conditions being loss of function with the absence of an identifiable organic pathology. Various distinct domains, such as history of trauma, neuropsychological profiles, family relations and emotion regulation, have been studied for years, but no single disorder model is ...

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