Seizure

Progressive myoclonus epilepsy (PME) associated with neuroserpinosis due to mutations in the SERPINI1 gene is a recently described neurodegenerative disorder. Neuroserpin accumulation in neuronal inclusions causes a clinical phenotype changing between severe childhood-onset PME and presenile dementia [1]. We report a 10-year-old boy who had de novo, heterozygous G392R likely pathogenic variant in the SERPINI1 with early-onset rapidly progressive myoclonic epilepsy.

Convulsions with mild gastroenteritis (CwG) was first proposed by the Japanese scholar Morooka in 1982 [1], and was then gradually recognized and received attention from Asia and Europe. CwG affects infants and young children usually between 6 months and 3 years of age, and typically occurs in previously healthy children. CwG is a unique condition where patients experience seizures during gastroenteritis [1]. It is characterized by afebrile, brief seizures associated with mild gastroenteritis without dehydration, electrolytic derangement, or hypoglycemia, and ...

There is agreement that women have a two to three times higher risk of developing Post-Traumatic Stress Disorder (PTSD) compared to men [1]; in particular, for what concern the lifetime prevalence of this disorder, it results to be about 10–12% in women and 5–6% in men [2,3]. Women’s increased rates of PTSD are not fully explained by differential patterns of trauma experiences [2] and studies have been focused on possible psychosocial and biological differences [4,5].

A relationship has been observed between epilepsy and impairment of neuropsychological functioning in children. For focal epilepsies, the relationships between seizures and interictal epileptiform discharges are controversial, but some interictal epileptiform activities show subtle clinical manifestations. Interictal epileptiform discharges on the electroencephalogram (EEG) are regarded as a correlate of persistent pathological neuronal discharges [1]. Cognitive and behavioral problems are common in children with atypical seizure semiology and/or atypical EEG features [2,3].

Status epilepticus (SE) is a severe condition of unrelenting seizures requiring urgent identification and treatment. SE may be unprovoked, occurring in someone with epilepsy, or may be provoked by acute intracranial disease or metabolic derangement. Increasingly encephalitis, particularly autoimmune types, is reported to cause refractory seizures. Whilst convulsive SE is readily identified, non-convulsive SE (NCSE) can be difficult to identify clinically, and electroencephalography (EEG) is required.

The fundamental characteristic of epilepsy is the prolonged predisposition to generate epileptic seizures [1]. Epileptic seizures can be broadly divided into three categories, including focal onset seizures, generalized onset seizures and unknown onset seizures [2]. Although there are much differences between different seizure types, about 70% of the affected patients positively respond to the treatment and get seizure free [3].

Epilepsy is a common neurologic disorder that currently affects more than 50 million people globally with at least 80% of cases found in low- and middle-income countries (LMICs) [1,2]. Whilst pharmacologic treatment results in seizure freedom in roughly 70% of patients with epilepsy [3], the number of individuals diagnosed with epilepsy and receiving and correctly taking anti-seizure medication (ASM) in LMICs remains low. A 2014 review found that 59% of people with epilepsy in sub-Saharan Africa do not receive any ...

Medical cannabis (MC) has been used in various medical conditions for centuries. Over the last decades, scientific research has revealed several mechanisms of action of cannabis and its compounds. Of more than 120 known cannabinoids, tetrahydrocannabinol (THC) and cannabidiol (CBD) have been most thoroughly investigated. For CBD, a non-psychoactive cannabinoid, anticonvulsant potential has been shown in different animal models [1] and Class 1 evidence was revealed in severe paediatric epilepsy syndromes (Lennox-Gastaut-Sydrome and Dravet-Syndrome) [2,3].

Anti-seizure medications (ASMs) are the primary treatment option for generalized tonic-clonic (GTC; previously primary generalized tonic-clonic) seizures in patients with idiopathic generalized epilepsy (IGE [1,2]). However, clinical data regarding ASM efficacy in this indication are limited and few ASMs are licensed to treat GTC seizures [3]. Other common generalized seizure types that can occur concurrently in patients with IGE and GTC seizures are myoclonic and absence seizures, which may occur in approximately 60% and 40% of patients with GTC seizures, ...

The World Health Organization defines therapeutic adherence as “the extent to which the patient’s behaviour matches the prescriber’s recommendations” [1]. It is therefore a dynamic, complex and multifactorial phenomenon for which patients and healthcare professionals share responsibility. Non-adherence to long-term therapies is a key issue as it concerns around half of all chronically ill patients [1]. Poor adherence severely compromises therapeutic effectiveness and therefore impacts the quality of life of these patients and the economics of health care.