Seizure

Epilepsy is a common neurological disorder in children with an incidence rate between 41 and 187 per 100,000 persons globally (1, 2). Developing countries, particularly in rural areas have higher incidence rates (2). Although several antiseizure medicines (ASM) have been developed in recent decades, it is estimated that about 20% of patients fail to respond to standard therapies and continue to experience debilitating drug-resistant seizures (1, 3).

SCN8A developmental and epileptic encephalopathy (SCN8A-DEE) is a rare and serious genetic epilepsy syndrome characterized by early-onset developmental delay and/or regression, cognitive impairment, and multiple intractable seizure types.[1-4] The SCN8A gene is highly expressed in the central nervous system and encodes the Nav1.6 voltage-gated sodium ion channel, which has a major role in regulating the excitatory neuronal networks in the brain.[1-3]

Stroke is a leading disease worldwide, with an estimated incidence of more than 15 million cases annually [1]. Post-stroke epilepsy (PSE), which is defined as the occurrence of one or more unprovoked epileptic seizures at least one week after the stroke, develops in at least 4-6% of the stroke population [2]. Cerebrovascular disease is one of the most common causes of acquired epilepsy and accounts for about 10-15% of all newly diagnosed epilepsy cases [2]. Although PSE has overall a ...

Reflex seizures (RSs) are epileptic events consistently induced by specific triggers. They occur in epilepsies of varied etiologies and are often accompanied by spontaneous seizures. The genetic background of RSs is heterogeneous and polygenic or multifactorial inheritance is suspected in the majority of cases. Although causative single-gene variants are rarely identified, the number of genes associated with RSs is gradually increasing. In this article, we describe individuals presenting reflex seizures as predominant epileptic events in whom we identified pathogenic and ...

In high-altitude areas (HAA), oxygen in inspired air is at a lower partial pressure. The ensuing hypoxia elicits neurohumoral and hemodynamic responses in both brain and lungs with varying severity of cerebral and pulmonary syndromes [1,2]. While there is data on the risk of developing certain pathophysiological conditions at high altitude, such as cerebral or pulmonary edema, there is a paucity of literature detailing the incidence of seizures after ascent to HAA [3].

The association between Alzheimer’s disease (AD) and epileptic seizures is well known [1, 2]. Several studies reported an increased risk of late-onset unprovoked seizures in AD patients. The most common seizure type is represented by non-motor focal seizures with impaired awareness [1]; myoclonic jerks can also occur [1, 3]. Non-convulsive status epilepticus has been rarely reported.

The histone demethylase family plays a key role in chromatin structure and gene regulation during development. Mutations in the genes encoding the lysine demethylase 5 (KDM5) were reported in individuals with many diseases, including neurodevelopmental disorders such as intellectual disability. Recently, KDM5B has been identified as a gene regulator causative of recessive neurodevelopmental disorders. Although numerous variants in this gene have been identified, genotype / phenotype correlation remains variable.

Tuberous sclerosis complex (TSC) is a multiorgan autosomal dominant disorder associated with mutations in either the TSC1 (encoding hamartin) or TSC2 (encoding tuberin) genes. [1,2,3] Epilepsy is a hallmark of TSC, with two-third of patients developing drug resistance. [4] There is general agreement that epileptic seizures originate in brain cortical tubers or in the surrounding cortex, [5] which are present in 90% of patients regardless of age. [6] Other typical brain abnormalities of the central nervous system (CNS) involvement in ...

Perampanel, a selective, non-competitive α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antagonist, is a once-daily oral anti-seizure medication (ASM) for focal-onset seizures (FOS, previously referred to as partial-onset seizures) and generalized tonic-clonic (GTC) seizures (previously primary generalized tonic-clonic seizures) [1, 2]. In the US, perampanel is approved as an adjunctive treatment and monotherapy for FOS in patients aged ≥4 years, and as an adjunctive treatment for GTC seizures in patients aged ≥12 years [1].

Status Epilepticus (SE) is a medical emergency resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms that can lead to abnormally prolonged seizures1. It represents a life-threatening condition, with an important mortality and morbidity, in particular in refractory cases and in elderly patients2,3.