Seizure

The YWHAG gene (OMIM∗ 605356) resides on Chr 7q11.23 and encodes the tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma (14-3-3γ), which is highly expressed in the brain. This protein regulates neuronal migration and its abnormal activity may cause morphological defects in the developing cortex. The scientific interest in the YWHAG gene firstly started in 1999, when the clinical influence was presumed due to the YWHAG location at the most telomeric end of the deletion region founded in Williams–Beuren syndrome (WBS) [1].

Perampanel (PER) is an adjunctive treatment option for focal epileptic seizures with or without secondary generalization in patients with epilepsy aged ≥4 years and for primary generalized tonic-clonic seizures in patients with idiopathic generalized epilepsy aged ≥7 years (EU) or ≥12 years (USA). In the USA PER can also be prescribed as monotherapy for focal epileptic seizures. It was first approved in Europe and the USA in 2012. PER is a selective non-competitive antagonist of α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptors.

HIV CNS viral escape syndrome is quite uncommon. It is characterized by high HIV viral load in the CSF despite having a low serum viral load [1]. The neurological manifestations of CNS viral escape syndrome that have been reported include insidious or acute onset of headache, tremors, cognitive impairment, focal neurologic deficit, seizures, behavioral disturbance, and dysarthria [1]. We report a unique case of HIV CNS escape syndrome in a 47-year-old female with controlled HIV who presented with new-onset refractory ...

We have read with great interest the article ‘Real-life experience with brivaracetam in 101 patients with difficult-to-treat epilepsy–A monocenter survey’ (Steinhoff et al.; 2017 May; 48:11–14).[1] However, we wish to complement this article’s use of laboratory testing for brivaracetam and levetiracetam analysis.

The relation between sleep and epilepsy has been widely investigated since epilepsy may alter sleep, and sleep deprivation may induce epileptic seizures [1]. Sleep disturbances are frequently reported by patients with epilepsy, as well as daytime sleepiness, which is particularly prevalent in those who are treated with more than one antiseizure medication (ASM) [2]. Several lines of evidence suggested an association between sleep and epilepsy, and the numerous questionnaire-based and polysomnographic studies investigating nocturnal sleep in patients with epilepsy hypothesized ...

The COVID-19 epidemic erupted in 2019 has increased mortality worldwide, especially in European countries [1]. The best established risk factors for death due to COVID-19 are older age, hypertension, diabetes, obesity, and malignancy [2, 3, 4].

Antiseizure medication (ASM) therapy remains the main treatment of epilepsy at present, with 65%–85% of patients with epilepsy becoming seizure-free after receiving appropriate medication treatment[1]. Up to 88% of patients suffer from one or more ASM adverse effects, such as memory impairment and depressed mood[2], resulting in decreased quality of life. Consequently, ASM discontinuation may be considered in patients with epilepsy, whose seizures have been completely controlled for a prolonged remission period, typically two to five years without interictal epileptiform ...

Dravet syndrome (DS) is a developmental and epileptic encephalopathy, characterized by epilepsy, cognitive decline, behavior disorders and motor impairment [1], caused by a mutation in SCN1A in almost all the patients. SCN1A encodes the α1 subunit of the voltage-gated sodium channel (Nav1.1) and its loss of function determines a dysfunction of GABAergic interneurons with consequent impairment of inhibitory pathways [2]. The mortality in DS is very high, not only compared to healthy controls but also to other patients with drug-resistant ...

Therapeutic drug monitoring (TDM) of older generation antiseizure medications (ASMs) such as phenytoin, carbamazepine, phenobarbital or valproate has been widely used since 1960 and the relationship between plasma ASM levels and a clinical effect was well established for some of these agents [1]. Pharmacokinetic characteristics such as non-linear metabolism or drug-drug interactions support the use of TDM for this type of medication. Prescription of older agents however, is decreasing in favor of newer generation ASMs (i.e.

Epilepsy is a chronic condition characterised by risk of unprovoked seizures, which has multifaceted implications for the lives of individuals.[1] People with epilepsy (PWE) experience related cognitive, emotional and psychological difficulties,[2] including anxiety, depression and low self-esteem, as well as problems with family functioning.[3] PWE also experience social and legal restrictions with possible implications for their welfare, not least in relation to driving[4] and employment.[5]