Book Review: Simon Shorvon, The idea of epilepsy, a medical and social history of epilepsy in the modern era (1860-2020), Cambridge: Cambridge University Press, 2023.
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Book Review: Simon Shorvon, The idea of epilepsy, a medical and social history of epilepsy in the modern era (1860-2020), Cambridge: Cambridge University Press, 2023.
Seguir leyendo →Epilepsy is a common but serious neurological disease affecting an estimated 50 million people worldwide, with an estimated prevalence of 0.5–1%.[1] Epileptic seizures are caused by dysfunction of neurons and neuronal networks in the brain and are clinically diagnosed after 2 or more unprovoked seizures or with supporting laboratory data.[2] Anti-seizure medication (ASM) is the most widely used treatment for epilepsy.[3]
Seguir leyendo →Microdeletions of chromosome 6q are associated with different phenotypes and, to date, about 100 patients have been described in the literature. Despite the lack of a definite phenotype-genotype correlation, Hopkin et al. proposed a classification according to the location of the deletion in the long arm of chromosome 6: proximal (6q11–q16), interstitial (6q15–q25), and terminal (6q25-qter) [1–3]. Clinically, patients with interstitial deletions usually show facial and body dysmorphisms, variable degrees of developmental delay, limbs and visceral malformations, and, notably, Prader–Willi ...
Seguir leyendo →Recently there has been a rising interest in the identification of possible risk factors for epilepsies. In the present study, we investigated the potential association between gout and epilepsy in an outpatient cohort in Germany.
Seguir leyendo →Epilepsy is a chronic neurological disease and the single most common brain disorder worldwide. It affects individuals of all ages, races, social status, and nations. More than 70 million people have been diagnosed with epilepsy worldwide and nearly 90% of them live in developing regions [1,2]. Approximately, 9 million patients with epilepsy have been reported in China accounting for nearly 20% of the cases worldwide, with an annual growth rate of 40,000 [3]. Antiseizure drugs are the cornerstone of epilepsy ...
Seguir leyendo →The remarks in the letter[1] reveal the authors’ deep insight into current challenges in genetic studies. They refer to three critical questions: how to identify the causative genes of common diseases like genetic generalized epilepsy (GGE); how to determine gene-disease associations, especially for some genes with questionable epileptogenic effects such as EFHC1 and CACNA1H; and how to evaluate the pathogenicity of variants in a given gene and their clinical implication, as in the case of variants of SLC2A1 (encoding GLUT1).
Seguir leyendo →Anti-seizure medications (ASMs) are commonly prescribed in older adults as the risk of recurrent unprovoked seizures (epilepsy incidence) in the adult population increases exponentially in older age.[1,2] Resultantly, seizure prevalence approximately doubles between age 50 and 80 and commonly co-occurs with other comorbidities such as cerebrovascular or neurodegenerative disease.[3] Older adults may be particularly vulnerable to the side effects of ASMs because of aging-associated metabolic changes.
Seguir leyendo →Highly purified add-on cannabidiol (CBD) is approved as Epidiolex® in the USA for the treatment of seizures associated with Lennox-Gastaut syndrome (LGS), Dravet syndrome (DS), or tuberous sclerosis complex (TSC) in patients ≥1 year of age [1] and as Epidyolex® in the UK/EU in conjunction with clobazam for LGS and DS in patients ≥2 years of age [2]. It is additionally approved for TSC in patients ≥2 years of age in the UK/EU without clobazam [2]. The objective of this ...
Seguir leyendo →We recently read an article [1] by Yu et al. with great interest and appreciate the author’s efforts to address the frequency of false-positive diagnosis of epilepsy. As a healthcare professional working in the field of neurology, I found this review very insightful in revealing the current state of epilepsy misdiagnosis and its potential risks. These findings will help decrease false-positive diagnosis of epilepsy.
Seguir leyendo →The differential diagnosis of non-epileptic tonic events (NTEs) often includes epileptic tonic seizures (ETS), and is a common reason to order an electroencephalogram (EEG) and brain imaging. Not infrequently, NTEs can be misinterpreted as seizures [1]. Most severe NTEs in critically ill patients are often related to decerebrate or decorticate rigidity in the setting of increased intracranial pressure or a direct result of brainstem injury [2,3]. Differentiating epileptic seizures from movements mimicking seizures and establishing a correct diagnosis can result ...
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