Does public attitude change by labeling a person as epileptic, person with epilepsy or the acronym PWE? – A systematic review

Epilepsy is considered a public health priority and carries since ancestral times a high burden of stigmatization [1–3]. Negative perceptions towards the condition could limit patient’s social interaction, schooling, work and may affect their quality of life, leading them to hide their diagnosis in order to protect themselves from the effects of stigma [4,5]. Disease definition and classification based on etiologic, pathophysiologic, diagnostic, therapeutic and prognostic knowledge are helpful in clinical practice, but descriptions usually do not consider personal characteristics ...

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Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations

The gene TBC1D24, TBC1 domain family member 24 (OMIM 613577), encodes a protein with an N-terminal Tre2–Bub2–Cdc16 (TBC) domain linked to a TBC–LysM (TLDc) domain [1]. The TBC domain is involved in vesicle trafficking in brain and somatic development, whereas the function of the TLDc domain is largely unknown [1,2]. In 2010, Falace et al. first mapped the familial infantile myoclonic epilepsy (FIME) locus on chromosome 16p13.3 by linkage analysis. Systematic mutational screening of 34 genes in two affected family ...

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Utility of MRI, PET, and ictal SPECT in presurgical evaluation of non-lesional pediatric epilepsy

Diagnostic brain imaging has been widely utilized and plays a pivotal role in the presurgical evaluation of children with epilepsy. Despite a daunting amount of data accumulated in the past three decades, evidence-based guidelines for the use of various imaging modalities in the clinical management of pediatric epilepsy are missing. A report of ILAE Task Forces and Commissions in 2014 on diagnostic tests in the evaluation for resective surgery in epileptic children cited several shortcomings of the available data, including ...

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A novel variant in SCN1A gene associated with Dravet syndrome

Epilepsies are a diverse collection of neurological disorders. Thirty percent of which have a genetic aetiology [1]. Variants in the SCN1Agene have been associated with severe myoclonic epilepsy in infancy (Dravet syndrome) [2]. It is a rare autosomal dominant disorder characterized by the appearance of seizures, usually prolonged hemi-clonic or generalized tonic-clonic type, in an otherwise healthy baby which could be triggered by various stressors. Generally, they start as febrile seizures which eventually occur in the absence of fever.

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Changes in tryptophan and kynurenine pathway metabolites in the blood of children treated with ketogenic diet for refractory epilepsy

A high-fat, low-carbohydrate diet, also called the ketogenic diet (KD), was introduced into clinical practice as an alternative method to treat epilepsy, based on observations that fasting and starvation rendered an anti-seizure effect in epileptic patients [1]. Since then, the classic KD and its later modifications (i.e. the modified Atkins diet (MAD) and low glycemic index treatment have been used to manage patients with intractable epilepsy. Of note, the term KD currently refers to any dietary therapy which would be ...

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Knowledge, attitudes and practice towards epilepsy among medical staff in Southern China: Does the level of hospitals make a difference?

People with epilepsy and their families suffer from severe stigma and discrimination in China, mostly because of traditional and superstitious views [1–3]. Such cultural misconceptions are considered to be a greater handicap to people with epilepsy than disability from repetitive seizures or antiepileptic drug side effects [4,5], contributing to tremendous psychological, economic, and social burdens [6–8]. Worse more, such stigmatizing attitudes are not just prevalent among the general population, but also exist in health-care personnel even though they have received ...

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Corrigendum to “Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature” [Seizure 55 (February) (2018) 1–3]

The authors would like to report an error appearing in the text, under 2. Case Reports, in paragraph 2.2 Patient 2. The KCNT1 de novo gene mutation was mistakenly reported as c.2965 G > T, instead of the correct mutation which was c.2955 G > T. The change does not affect the scientific results.

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Evaluation for epilepsy surgery – Why do patients not proceed to operation?

Surgical treatment for epilepsy is an effective and safe procedure for selected patients in drug resistant focal epilepsy. [1–3] The presurgical evaluation is time consuming and costly and entails a multidisciplinary approach including neuroimaging, video-EEG recordings, neuropsychiatric assessment and neuropsychological assessment. Recent studies have demonstrated the cost-effectiveness and health economic gains of successful surgery. [4] Most studies of epilepsy surgery focus on the outcome of patients who proceed to surgery.

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DC shifts, High Frequency Oscillations, Ripples and Fast Ripples in Relation to the Seizure Onset Zone

The success of epilepsy surgery relies on the accurate localization and complete resection or disconnection of the epileptogenic zone (EZ) from surrounding brain tissue. The epileptogenic zone is defined as the minimum amount of cortex that must be resected to produce seizure freedom and is consequently an area that can only be identified retrospectively based on epilepsy surgery outcome [1]. In contrast, the seizure onset zone (SOZ) is defined as the area of cortex where the seizure is generated and ...

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