Seizure

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.

Epilepsy is one of the most common neurological diseases [1]. In about a third of all patients, seizure freedom is not achieved by anti-seizure medication (ASM) [2, 3]. These patients are referred to as “drug resistant”. Drug resistant epilepsy (DRE) in children is not clearly defined. In early infancy the definition is even more complicated and differs in many aspects from DRE in children and adolescents. Seizures in the neonatal period and first month of life are most frequently caused ...

Infantile spasms belong to the group of epileptic encephalopathies that typically occur in early infancy and are often associated with severe developmental delay. Little is known about whether focal features are part of the syndrome and thus occur independently of etiology, or whether focal features always indicate a cerebral lesion.

Brivaracetam (BRV) is approved as an adjunctive therapy in the treatment of focal seizures, either with or without secondary generalisation, for patients from the age of four [1]. BRV is commercially available in the Netherlands since 2016. LEV and BRV share a similar mechanism of action in seizure reduction. Both target the transmembrane synaptic vesicle protein 2A (SV2A) [2]. However, BRV was found to have a 15- to 30-fold higher affinity and a higher selectivity for the SV2A receptor than ...

The recent paper on eye disorders associated with newer antiseizure drugs is an interesting work [1]. The authors tried to evaluate this association based on the US Food and Drug Administration (FDA) Adverse Event Reporting System (FAERS) using a disproportionality analysis. We agree with the authors on the limited literature of adverse effects of newer antiseizure drugs [1]. Authors concluded that topiramate and lamotrigine were disproportionately associated with serious eye-related adverse events.

Much of what we know about the evolution and development of epilepsy to date has been obtained from observation of the condition post-diagnosis. However, there is a substantial proportion of patients (16-77%) [1–5] who report a history of seizures that occur before their diagnosis is made. This delay to diagnosis, which may range from a few months to many years [1–5], flags a large gap in our knowledge of epilepsy. The identification of underlying factors associated with prior seizures may ...