Seizure

Sudden unexpected death in epilepsy (SUDEP) is an important cause of premature mortality in persons living with epilepsy (PWE) [1–2]. The incidence of SUDEP in children and adults is equal, approximately 1.2 per 1000-person years [3–5]. SUDEP is the leading cause of epilepsy-related deaths in children and adults with epilepsy [1–2]. Furthermore, next to stroke, SUDEP is the second leading cause of total years of potential life lost [6–7]. Although inroads have been made in our understanding of SUDEP, its ...

Childhood absence epilepsy (CAE) and juvenile absence epilepsy (JAE) are well-defined syndromes with absence seizures being the predominant type among the four idiopathic generalized epilepsies (IGEs).[1] CAE and JAE show some degree of overlap regarding age at onset, electroencephalography (EEG) features, and seizure types; however, they are considered distinct IGE subgroups with different prognostic and therapeutic implications.[2,3] They are characterised by typical absence seizures in otherwise healthy children.

Epilepsy is one of the most common neurological disorders, with an estimated prevalence of 45.9 million worldwide.[1] Non-epileptic spells (NES) are episodic events that can present with symptoms similar to epileptic seizures (ES) but are not associated with abnormal electrical activity.[2,3] NES often refers to all events that are not epileptic seizures, including functional seizures (psychogenic non-epileptic spells, PNES) and other non-functional events such as syncope, migraine, sleep abnormalities, movement disorders.

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Historically, dissociation has been difficult to describe and assess. In the late 1800’s, functional seizures, dissociative phenomena, ictal symptoms, as well as other difficult-to-explain presentations were grouped together under the term “hysteria” and were famously studied by French neurologist Jean- Martin Charcot [1]. Today, what was formerly called hysteria is seen as distinct disorders ranging from DSM-5 dissociative disorders and functional neurological symptom disorder (conversion disorder) to complex sensory changes now recognized as ictal phenomena.

SCAF4 is located at the chromosome locus 21q22.11, spans approximately 61kb of genomic DNA, and encodes serine/arginine-related carboxyl-terminal domain (CTD) -associated factor 4. Nine transcriptional variants have been described. Transcript 1 (NM_020706.2) consists of 20 exons, encoding 1147 amino acids, including a CTD-interacting domain (CID) and RNA-recognition motif (RRM) domain [1]. SCAF4 inhibits transcriptional reading [2]. Moreover, in combination with SCAF8, it inhibits the recognition of early alternative poly(A) sites, thereby preventing excessive production of nonfunctional truncated proteins [3].

In neonates, most seizures are attributable to acquired non-genetic causes, including hypoxic-ischemic encephalopathy (HIE), vascular events or infectious diseases. A considerable subgroup, however, has a genetic basis. Many epilepsy-related genes encode ion channels, and epilepsies caused by pathogenic variants in this group are often referred to as channelopathies.[1–3] Many of the channelopathies-related epilepsies are associated with defects of voltage-gated sodium, potassium or calcium channels.

On February 24, 2022, the troops of the Russian Federation launched a full-scale invasion of the territory of Ukraine. The health care system has suffered the damage and destruction of medical care facilities, medical supply systems, and logistics.

Genetic variants in KCNA2 (potassium voltage-gated channel subfamily A member 2) have been associated with a spectrum of symptoms such as epileptic encephalopathy, myoclonic seizures, intellectual disability, and cerebellar ataxia [1,2]. Individuals with KCNA2 gain-of-function genetic variants could benefit from tailored-treatment regimens [1,3]. Here, we report a 2-year-old boy with early-onset drug refractory absence seizures and gait ataxia. The clinical exome sequencing revealed a gain-of-function genetic variant in the KCNA2 gene.

The epidemiological link between epilepsy and psychiatric disease is well established. Virtually all psychiatric disorders are more common in people with epilepsy than in those without. A recent review based on meta-analyses of population-based studies, affirms that people with epilepsy are burdened by a high prevalence of the major psychiatric disorders, including depression (23%), anxiety (20%) and psychosis (5-7%) [1].