Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy

Epilepsy, conventionally classified as idiopathic by etiology in up to 70 % of the cases, has started to reveal its genetic roots with the advent of widely available genetic testing [1]. The majority of the genes identified as disease causing mutation encode ion channels or receptors including voltage-gated sodium, potassium, calcium and chloride channels; additionally, receptors for acetylcholine and γ-amino butyric acid (GABA) [2]. The most widely investigated association is between SCN1A mutations (OMIM 182389) with Dravet syndrome (DS) (OMIM ...

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Autism spectrum disorder in children and young people with non-epileptic seizures

Non-epileptic seizures (NES) are paroxysmal events which to an observer resemble epileptic seizures, but do not have the electrophysiological correlates of epilepsy. NES are regarded as psychogenic in origin, but the diagnosis can be made without requiring identification of a psychological stressor [1]. Semiology can vary greatly between patients and a range of alternative names are used for the disorder [2].

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Influence of new versus traditional antiepileptic drugs on course and outcome of status epilepticus

Status epilepticus (SE) is a frequent neurological emergency with an incidence of 16 to 36/100,000 [1,2]. The prognosis of SE is largely determined by unmodifiable patient characteristics like age, a history of previous seizures, the patient’s premorbid functional status, the seizure semiology, EEG patterns, and particularly the etiology underlying the SE [3–8]. However, prolonged SE duration also contributes to poor prognosis, mirrored by mortality rates of 25% in refractory SE as compared to approximately 10% in non-refractory SE [9,10].

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Stereo-EEG exploration in a case of eating epilepsy with cutlery-induced seizures

A rare type of reflex seizures/epilepsy is eating seizures/epilepsy (ES/EE) with an estimated prevalence of 0.1-0.05% amongst epilepsies[1]. Eating seizures may be triggered by mastication, by the thought/sight/smell of food, by the presence of food in the mouth without chewing, by swallowing, by certain types of food, and by the texture, temperature, or food-related sounds. We present a case investigated with SEEG where eating only with cutlery use was the seizure trigger.

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BELIEFS OF PEOPLE LIVING WITH EPILEPSY IN THE ACCRA METROPOLIS, GHANA

Epilepsy is a chronic brain disorder that briefly interrupts the normal electrical activity of the brain to cause seizures [1]. Roughly 50 million people worldwide suffer from epilepsy, which accounts for 0.5% of the global burden of disease [2]. Epilepsy directly affects around 10 million people in Africa [2], with its highest prevalence in poor countries including countries in sub-Saharan Africa [3]. The incidence of epilepsy in Ghana is believed to be high as compared to the sub-Saharan African region ...

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Effects of postpartum depression on the behaviour of children born to mothers with epilepsy

Postpartum depression (PPD) is a major depressive episode with an onset in pregnancy or within 4 weeks of delivery. The Fifth Edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) does not recognize PPD as a separate diagnosis; rather, patients must meet the criteria for a major depressive episode and the criteria for the peripartum-onset specifier [1].

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Epileptic seizure semiology in infants and children

Epileptic seizure semiology (SS) in infants and children are more elementary compared to that of adolescents and adults. The added difficulty of reliably assessing the level of consciousness provides even less opportunities to observe localizing or lateralizing signs. On the extreme end, SS may be generalized in a setting of a focal lesion or may show focal signs with misleading localization values (Jayakar and Duchowny, 1990; Duchowny et al. 1992; Brockhaus and Elger 1995). We review SS of patients aged ...

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Medical management of status epilepticus: emergency room to intensive care unit

That status epilepticus (SE) requires emergency treatment has been embedded in practice for decades, and the 2015 ILAE definition [1] emphasises both the need for rapid initiation of treatment and the risk of permanent damage if seizures are not promptly controlled. There are however many types of SE, and it is recognized that outcome is also significantly influenced by seizure type and etiology, as well as the patient’s age and comorbidities. In this review we will focus on the management ...

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Prevalence and risk factors for hyponatremia in adult epilepsy patients: Large-scale cross-sectional cohort study

Hyponatremia is a frequent adverse event in patients using antiepileptic drugs (AEDs), and a low serum sodium level can lead to fatigue, headache, vomiting, anorexia, and coma. The normal range of serum sodium is 135-145 mEq/L, while the mean serum sodium level is 129 ± 3.3 mEq/L in patients with symptomatic hyponatremia and it falls to 119 ± 9.1 mEq/L in patients with hyponatremia who develop neurological symptoms [1].

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A Tiered Strategy for Investigating Status Epilepticus

In status epilepticus the imperative to start anti-seizure therapy, initially subjugates the need to investigate the cause. Once treatment is initiated this balance shifts in favour of identifying: the causes and consequences of the seizure; the factors that predetermined the occurrence of status epilepticus; and finally the prognosis of this acute episode. Just as there are multiple causes of seizures and epilepsy, there are a vast number of causes of status epilepticus. We discuss the more common and the more ...

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