THE PRESENTING SYMPTOMS OF LAFORA DISEASE: AN ELECTROCLINICAL AND GENETIC STUDY IN FIVE APULIAN (SOUTHERN ITALY) FAMILIES

Lafora Disease (LD, OMIM# 254780) is a progressive myoclonic epilepsy inherited in an autosomal recessive manner, due to rare mutations in either the EPM2A or the NHLRC1 genes, encoding for the laforin glycogen phosphatase on chromosome 6q24 and the malin ubiquitin E3 ligase on chromosome 6p22.3 [1], respectively. The absence of either of the two proteins results in Lafora bodies, which contain polyglucosan, a poorly branched form of glycogen, in neurons, muscle and other tissues, and main drivers of neurodegeneration ...

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Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene

Epilepsy with eyelid myoclonias, originally depicted by Jeavons in 1977, is a reflex epilepsy characterized by jerking of the eyelids with or without absences precipitated by eye closure or by light (eyelid myoclonia, EM), eye closure-induced EEG paroxysms and photosensitivity. Childhood-onset, female predominance and a normal development are typical features, though a mild intellectual disability has been reported. Sotos syndrome is a disorder characterized by a distinctive facial appearance, learning disability and overgrowth in childhood with macrocephaly, caused by heterozygous ...

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Cognitive Disorders in Epilepsy – Part II: Clinical Targets, Indications and Selection of Test Instruments

The intellectual function of patients with epilepsy has been a subject of interest for centuries [1,2]. It was long thought that all patients with epilepsy have poor cognition and progressively worsening memory. This belief started to change in 1985 with the results of a prospective, double-blind, placebo-controlled study done by Mattson et al through the Veteran’s Administration [3]. Six hundred twenty-two patients were enrolled, followed over one to six years, and given extensive neuropsychological tests before initiation of antiseizure medications ...

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The effects of the Fordyce’s 14 Fundamentals for Happiness Program on happiness and caregiver burden among the family caregivers of patients with epilepsy: a randomized controlled trial

Epilepsy is the second most common neurological disorder in the world (1,2). It affects all age, gender, racial, and socioeconomic groups. Epilepsy induces transient and recurrent electrical dysfunction in the brain due to abnormal electrical discharge in the brain (2,3). Estimates show that there are 65 million patients with epilepsy in the world (4). Around 75% of these patients live in developing countries (5). The prevalence of epilepsy in Iran is 5% (6).

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A prospective cohort study to assess the frequency and risk factors for calcification in single lesion parenchymal neurocysticercosis

Neurocysticercosis (NCC) is the most frequent helminthic infection of the nervous system. It occurs when humans become intermediate hosts in the life cycle of the pork tapeworm Taenia solium after ingesting its eggs. The disease is transmitted from tapeworm carriers to healthy individuals through unhygienic food handling or by direct contact with human faeces [1]. NCC is the most common acquired cause of epilepsy in developing countries [2–4]. Classically, neurocysticercosis evolves through four stages: vesicular, colloidal, granular nodular and calcified ...

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Catastrophising and repetitive negative thinking tendencies in patients with psychogenic non-epileptic seizures or epilepsy

Psychogenic Non-Epileptic Seizures (PNES) are characterised by episodic disturbances of normal brain functions superficially resembling epileptic seizures. However, rather than being related to epileptic activity in the brain, PNES are considered to result from activation of an established ‘seizure scaffold’ and as a dissociative response to aversive internal or external stimuli [1]. The aetiology of PNES is heterogeneous and a combination of aetiological factors is likely to be relevant in most cases [2,3].

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Redefining the role of Magnetoencephalography in refractory epilepsy

Magnetoencephalography (MEG) possesses a number of features, including excellent spatiotemporal resolution, that lend itself to the functional imaging of epileptic activity. However its current use is restricted to specific scenarios, namely in the diagnosis refractory focal epilepsies where electroencephalography (EEG) has been inconclusive. This review highlights the recent progress of MEG within epilepsy, including advances in the technique itself such as simultaneous EEG/MEG and intracranial EEG/MEG recording and room temperature MEG recording using optically pumped magnetometers, as well as improved ...

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