Seizure

Mutations in the PACS2 gene are responsible for neonatal-onset developmental and epileptic encephalopathy, mild facial dysmorphisms, and cerebellar dysgenesis with folia abnormalities [1].

We thank Dr. Finsterer for his interest and critical appraisal of our publication entitled “Myoclonus status revealing COVID 19 infection ”.

Neonatal encephalopathy (NE) is one of the most common neurological disorders in the neonatal intensive care unit (NICU). Recent diagnostic advances have changed the etiologic distribution of NE in preterm and term newborns in the last decade [1–6]. Neuroimaging studies using magnetic resonance imaging modalities, such as conventional, diffusion, and spectroscopy, provide a helpful guide regarding the etiologic definition and the pattern of brain injury [7]. Detecting the exact etiology of NE in each newborn has implications for optimal treatment, ...

Despite numerous pharmacological options for people with epilepsy, the goal of seizure freedom without side-effect burden remains elusive for a large proportion of individuals. Treatment with anti-seizure medications (ASMs) typically starts with one ASM, whereafter the individual’s regimen is adapted with changes to drug and dose until seizures are controlled and the treatment is tolerated [1].

Circumstantial language in individuals with temporal lobe epilepsy (TLE) is clinically identifiable and describes a pedantic, repetitive, and overly detailed output style [1–3]. This can be distinguished from tangentiality which is characterised by meandering and often irrelevant content. TLE is frequently associated with cognitive-linguistic impairments [4] which, in current practice, are most commonly demonstrated on neuropsychological examination at a single-word level, such as on tasks of confrontation naming [5,6].

Epilepsy is one of the most common neurologic diseases and affects over 70 million people worldwide [1]. The estimated global burden of epilepsy accounts for 5% of the total neurological disability-adjusted life years (DALYs) [2]. Not only is the quality of life lessened in patients with epilepsy, but they also have a higher risk (three times or greater) of dying from sudden cardiac death compared to the general population [3]. The standardized mortality rate in epilepsy patients in high-income countries ...

Although the seizures of most patients with epilepsy can be effectively controlled, 20-30% of patients still develop refractory epilepsy [1], which affects their overall prognosis. The neuropsychiatric abnormalities of patients are an important factor leading to treatment failure.

Wolf-Hirschhorn syndrome (WHS; OMIM#194190) is a contiguous gene deletion syndrome affecting the terminal region of 4p [1–4]. Deletion 4p was first described in 1961 by Cooper and Hirschhorn in a child with defects of midline fusion, low birth weight, poor development, and seizures beginning soon after birth [5]. The partial monosomy in that patient represented the first example of such an observation in humans and consisted of the deletion of more than half of the short arm of chromosome 4 ...

The Italian and the International Leagues Against Epilepsy have announced, on behalf of the many colleagues and friends who knew him personally, the passing of Ettore Beghi on October 10th in Milan, Italy at the age of 75. He had been unexpectedly struck by a catastrophic illness with little or no hope he could fully recover.

Epilepsy is a major public health problem in developing countries where most of the patients live. The health, sociocultural, economic and psychological consequences increase the burden. The illness is enmeshed in myths in developing as well as in developed countries. However, these myths are more pronounced in developing countries where several false and negative conceptions about the condition are rife [1,4]. The consequences are family and social isolation which makes epilepsy a social condition [5, 6].