Seizure

We read with great interest the article by María José Jiménez-Villegas and appreciate the author’s updated narrative review about the first unprovoked seizure (US) in children and adults [1]. We would like to add some concerns about nonconvulsive status epilepticus (NCSE) in children.

Seizure threshold 2 protein homolog gene (SZT2, MIM: 615463) is located on Chr1 p34.2. It is mainly expressed in the parietal lobe, frontal cortex, hippocampus, cerebellum and dorsal root ganglia of the central nervous system, and encodes a 3375 amino acid protein [1]. SZT2 protein is located in the lysosome and (together with KPTN, ITFG2, and C12orf66) forms the KICSTOR protein complex [2], which is a negative regulator of the rapamycin complex signaling pathway [3,4]. The over-activation of the rapamycin ...

Transient Loss of Consciousness (TLOC) is a time-limited loss of awareness characterised by abnormal motor control, loss of responsiveness, amnesia, and a complete recovery. Over 90% of TLOC presentations are explained by epilepsy, functional/dissociative seizures (FDS) or syncope [5]. A thorough analysis of the medical history by an expert is currently the most effective differential diagnostic method [21] because patients are typically asymptomatic on presentation and investigations after the event are of limited value.

Responsive Neurostimulation (RNS) is a relatively recent addition to the epilepsy surgery armory, gaining FDA approval in 2013 for use in adults with intractable focal epilepsy [1]. There have been at least 9 years of data evaluating the safety and efficacy in adult patients [2]. RNS is not yet approved for use in Europe, or for pediatric patients less than 18 years of age in the United States. Options of neurostimulation include vagus nerve stimulation (VNS), responsive neurostimulation, deep brain ...

This is a correspondence on published article on “ChatGPT’s responses to questions related to epilepsy”

Juvenile myoclonic epilepsy (JME) is one of the most common epilepsy syndromes among the genetic generalized epilepsies (GGEs). Although it has been described using different names for many years, it was most recently defined in 1989 by the International League Against Epilepsy (ILAE) as an epilepsy syndrome usually seen in adolescents that is characterized by seizures with bilateral, single or repetitive, arrhythmic, irregular myoclonic jerks (predominantly in the upper limbs) without loss of consciousness during jerks.

Asparagine synthetase deficiency (ASNSD, OMIM #615574) is a rare neurometabolic disease with an autosomal recessive inheritance pattern. Initially reported in 2013 by Ruzzo and colleagues, gene sequencing is required for the diagnosis and patients from diverse ethnic origins have been reported [1]. ASNSD results in congenital microcephaly, global developmental delay, severe epilepsy, progressive brain atrophy and ventriculomegaly with mortality as high as 70% during early infancy [2]. Here, we report the first case of a Korean/Vietnamese male child with ASNSD ...

Biomarkers are widely used in translational research as well as in everyday medical practice in different scenarios, including epilepsy. However, so far, a consensus on their definition and application is lacking. The profound and mutually influencing connection between sleep and epilepsy is well known and interests different epileptic syndromes either of pediatric and adult age, as well as other non-epileptic but otherwise dreadful conditions like sudden unexpected death in epilepsy (SUDEP) [1].

In 1969, Tassinari et al. initially described an epilepsy syndrome characterized by myoclonic absences as the main seizure type. This syndrome was later classified as part of the cryptogenic or symptomatic generalized epilepsies by the International Classification of Epilepsies and Epileptic Syndromes (ILAE, 1989) and subsequently as a non-motor generalized seizure (ILAE, 2017) [1]. Myoclonic absences are characterized by absences accompanied by myoclonic jerky movements and a tonic component leading to progressive elevation of the arms.

The coronavirus disease 2019 (COVID-19) pandemic has caused disproportionate morbidity and mortality in older adults, especially those with pre-existing conditions.[1],[2],[3] While certain pre-existing conditions such as diabetes and cardiovascular disease have been associated with COVID-19 severity in older adults,[2] the contribution of other chronic diseases to mortality and morbidity have been less well studied. There is little work investigating how neurological conditions, specifically epilepsy, affect older adults with COVID-19.