Seizure

In clinical practice, most dosing schemes for pharmacological treatment of epilepsy are based on efficacy (i.e. seizure reduction) and tolerability (i.e. side-effects). However, one can anticipate clinical effects (efficacy and tolerability) by measuring anti-epileptic drug (AED) serum drug concentrations (SDCs). This constellation is true for some older AEDs, such as phenytoin, since they imply regular monitoring of SDCs due to their non-linear pharmacokinetics and/or small therapeutic range [1].

Epilepsy affects 36,000 children in the UK and is associated with a mortality rate twice that of the general population [1,2]. Making an accurate diagnosis can be difficult and up to 30% of children admitted acutely with paroxysmal events initially diagnosed as epileptic have their diagnosis overturned [3]. EEG has long been used to aid in the diagnosis of epilepsy but it relies heavily on ictal capture as a normal inter-ictal EEG does not refute a diagnosis of epilepsy and ...

Video-EEG monitoring is essential for the pre-surgical evaluation of patients with intractable epilepsy. Many authors have described the characteristic features of seizures arising from different brain locations [1–11]. Analysis of video recordings of seizures is usually descriptive and non-standardized in contrast to interictal/ictal EEG patterns or neuroimaging which often receive much greater attention [12]. The value of seizure semiology has not been quantified relative to other modalities such as EEG, MRI or PET.

TPP1 (OMIM*607998) encodes lysosomal enzyme tripeptidyl peptidase 1 (TPP1), a member of the serine-carboxyl proteinase family. TPP1 is an aminopeptidase that releases of N-terminal tripeptides from a polypeptide and is involved in the processing of neuron-specific trophic factors [1–2]. This protein also shows minor endopeptidase activity [3]. Deficient TPP1 activity in mutant mouse models resulted in intralysosomal accumulation of autofluorescent storage materials, neuronal loss, and widespread axonal degeneration [4].

Psychogenic nonepileptic seizures (PNES) are episodes of seizure-like symptoms that are not associated with epileptiform discharges on electroencephalogram (EEG). They can be remarkably difficult to distinguish from epileptic seizures: both may involve alterations in mental status and behavior; sensory or perceptual disturbances; as well as simple or complex motor patterns [1]. The diagnosis of PNES may be suggested by: (i) Failure of multiple anticonvulsants (ii) “seizures” triggered by stress and other triggers atypical for epilepsy (iii) lack of incontinence or ...

Exogenous estrogens might lead to seizure worsening in women with epilepsy (WWE) by lowering the seizure threshold and inducing glucuronidation in women taking lamotrigine. Assisted reproduction techniques are increasingly used and often require estrogenic and estrogen raising hormone therapy. We aimed at reporting their possible impact on seizures in WWE.

It was with great interest that we read the recent publication of Meng-Na Zhang et al. in this periodical, reporting the pharmacoresistant epilepsy in patients (aged 3 months to 10 years old) with tuberous sclerosis complex (TSC) presenting calcification in the cerebral parenchyma [1]. The authors concluded that calcification in the epileptic foci is one of the main reasons for this pharmacoresistance to anti-epilepsy drugs and rapamycin, an inhibitor of the mTOR signaling pathway (often overactivated in TSC).

Status epilepticus (SE) is among the most common neurologic emergencies in pediatrics. An understanding of the epidemiology of SE can guide management and help clinicians counsel children and families. In this section, we aim to describe the epidemiology of pediatric SE and its subtypes while also examining the associated mortality and morbidity.

The congenital long QT syndrome (cLQTS) is caused by mutations in genes coding for cardiac ion channels 1. cLQTS is associated with prolongation of the QT interval in the ECG and a propensity to torsade de pointes arrhythmia, syncope and sudden cardiac death2,3 with incomplete penetrance. So far, 19 LQTS susceptibility genes have been identified 4 of which many are expressed both in heart and brain 5. In 75 % the mutations have been found in genes coding for the ...

We are all trying to do our best for our patients. Yet, almost a decade after the International League Against Epilepsy celebrated its centenary, untreated epilepsy continues to thrive. Efforts are made, plans are formulated, money is being spent. However, the treatment gap data from middle and low-income countries remains dismal [1]. We may claim small successes here and there, but we have to accept that there are serious flaws in how we have visualized the problem and the route ...