Seizure

The publisher regrets that there are some missing commas in some figures appearing in the abstract, the text and Table 1. This has now been corrected in the article. The errors were only made in an “ahead of print” version of the PDF and corrected prior to final publication.

MEF2C haploinsufficiency has been described in the literature over the past decade, with the majority of patients harbouring 5q14.3 microdeletions (MIM# 613443, mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations) [1]. These patients typically present with severely impaired expressive language, gross motor delay and epilepsy.2 The phenotype may resemble Rett’s syndrome in some cases, with stereotypic behaviour, particularly hand flapping, but no microcephaly or neuroregression [3].

Traumatic brain injury (TBI) is a common neurosurgical presentation, with a variable clinical phenotype depending on the severity and anatomy of injury [1, 2]. A proportion of TBI patients develop uncontrollable raised intracranial pressure (ICP). In this group, an increasingly common surgical management option is decompressive craniectomy (DC), involving the removal of a bone flap to allow the brain to swell while relieving ICP [3, 4]. The removed flap may be stored in an abdominal pouch or a specialised refrigeration ...

We are very grateful for the comments of van der Meer et al. on our paper describing retention rates of the first prescribed antiepileptic drugs (AEDs) in a large cohort of patients with poststroke epilepsy [1]. We decided to use Kaplan Meier (KM) analysis for several reasons. Firstly, the basic assumption of a KM analysis, that censoring (because of death) is independent of the outcome (discontinuation of an AED) seems reasonable. Secondly, one of the benefits of a KM analysis ...

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 ...