Seizure

Electroencephalography (EEG) is the gold standard electrophysiological test that is routinely used for presurgical evaluation and differential diagnosis and prognosis of epilepsy [1]. However, it is a dynamic test and specific EEG abnormalities, such as interictal spike waves, sharp waves, which can be combined as interictal epileptiform discharges (IEDs), may not be obtained initially because only 29%–56% of patients with epilepsy have IED during the initial recording [1,2]. Therefore, an EEG needs to be repeated to obtain diagnostic data because ...

Epilepsy is a common neurological disorder characterized by recurrent seizures. Approximately 40% of women suffering with epilepsy are in the reproductive age group. Between 0.3% and 0.7% of all pregnancies are in women with epilepsy. It is the most common neurological disorder requiring medical treatment during pregnancy [1,2]. Epilepsy treatment presents important clinical challenges during pregnancy. Infants of women with epilepsy have an increased risk of congenital malformations due mainly to the teratogenic effect of anti-epileptic drugs (AEDs) [3].

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 ...

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 ...

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 ...

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.

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 ...

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 ...

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.

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.