Seizure

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 ...

Status epilepticus (SE) is one of the most common neurologic emergencies [1–4] with a mortality that ranges from 0-3% in children to 20-30% in older adults [1,4–8]. SE requires timely treatment and close monitoring and support of cardiorespiratory function [9], which translates into a resource-intensive management in the hospital.

Epileptic seizures are a common reason for emergency room (ER) consultations. Several studies have indicated that approximately 45% of new-onset seizures (NOS) have no presumed cause, and 40% to 50% of these patients will ultimately receive a diagnosis of epilepsy [1]. It is controversial whether a single epileptic seizure with an underlying condition that increases the probability of recurrence should be considered epilepsy. According to the latest definition proposed by the International League Against Epilepsy (ILAE), the diagnosis of epilepsy ...

The most common chronic, recurrent neurological disease of childhood is epilepsy [1]. The association of epilepsy with Cardiovascular Disease (CVD) is widespread. Identified risk factors such as various arrhythmias, genetic risk factors like ion channel mutations, Antiepileptic Drugs (AEDs), structural cardiac conditions can explain the coexistence of epilepsy and CVD [2]. Also, among living epilepsy patients, transient left ventricular (LV) dysfunction was the most common postictal cardiac abnormality [3].