Seizure

The first description of a family showing tremulous movement associated with myoclonic jerks and generalized seizures was provided by Uyama and colleagues in 1985 [1]. In this description, no other neurological nor neuroradiological abnormalities were identified and all the patients showed a cortical reflex myoclonus as demonstrated by the electrophysiological assessment. Subsequently, four additional unrelated families, including a total of 27 individuals, with similar symptoms were described [2].

Next-generation sequencing (NGS) has made genetic testing of patients with epileptic encephalopathies easier – novel variants are discovered and new phenotypes described. Variants in the same gene – even the same variant – can cause different types of epilepsy and neurodevelopmental disorders. Our aim was to identify the genetic causes of epileptic encephalopathies in paediatric patients with complex phenotypes.

Video electroencephalogram (VEEG) is a non-invasive investigation for patients presenting with recurrent seizures. It is a crucial tool when determining whether seizures are epileptic in nature, classifying the subtype of epilepsy and determining suitability for surgery [1]. Patients are typically admitted to an epilepsy monitoring unit (EMU) for VEEG assessment and anti-epileptic medications (AEDs) are reduced or ceased in order to increase the likelihood of recording a seizure during the observation period [1].

Febrile seizure (FS) is the most common type of seizure observed in children. FS is characterized by episodes of convulsions that occur in association with fever in children aged between 3 months and 6 years without a central nervous system infections or electrolyte imbalance [1–5]. FS is believed to be a benign seizure syndrome, and is distinct from other neurologic disorders.

The authors regret that at the time the article was published the author Robert Mark Richardson was incorrectly listed as Mark Richardson. This has now been corrected.

Worldwide, 50 to 60 million people suffer from epilepsy and up to one third can develop drug-resistance [1]. Focal cortical dysplasia (FCD) is a wide group of heterogeneous pathological entities affecting various aspects of the brain, such as cortex architecture, grey- white matter junction and subcortical white matter composition [2]. The International League Against Epilepsy (ILAE) has recently proposed a three-tiered classification system of clinical-pathological subtypes. Type I is characterized by aberrant radial (Ia) or tangential (Ib) lamination of the ...

Presurgical evaluation in the epilepsy monitoring unit (EMU) is challenged by the need to record enough seizures in a limited number of days. Thus, it is well accepted to partially or totally withdraw AEDs in the EMU to precipitate seizures, more so as it is unlikely to influence the localizing significance of the recorded seizures [1–5]. AED withdrawal is typically associated with an increase in seizure frequency and generalization rate [6–9]. The increase in seizure frequency and generalized seizures correlates ...

Mutations in the sodium-gated potassium channel subunit gene KCNT1 are associated to different phenotypes such as Epilepsy of Infancy with Migrating Focal Seizures (EIMFS), Autosomal Dominant Sleep-related Hypermotor Epilepsy (ADSHE), previously named Nocturnal Frontal Lobe Epilepsy (ADNFLE), and other forms of focal epilepsies, epileptic encephalopathies and intellectual disabilities [1].

This paper reports on a patient with Lance-Adams syndrome who showed marked improvement of myoclonus following the introduction of cannabidiol.

Unlike epileptic seizures (ES), psychogenic nonepileptic seizures (PNES) don’t result from abnormal epileptiform neural activity. ES and PNES may appear similar but have different treatments. PNES are involuntary events of altered behavior that most likely are physical manifestations of chronic and, in some cases, acute psychological stressors [1–3]. Effective treatments of PNES include cognitive-behavioral-inspired therapy [1,4]. Prior to determining the diagnosis with video-electroencephalography (vEEG) [5], most patients with PNES were treated ineffectively with anti-seizure medications due to the misdiagnosis of ...