Seizure

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].

LCM was effective as the first add-on therapy in this real-life multi-centre study of a paediatric population with focal epilepsy. Further prospective studies with long-term follow-up periods are needed to confirm the effectiveness and tolerability of LCM.

Developmental and epileptic encephalopathies (DEEs) comprise a group of rare neurodevelopmental disorders that are characterized by early-onset, frequent, refractory seizures associated with significant developmental delay or impairment in developmental skills [1]. Unfortunately, comorbidities are frequently associated with DEEs, including autism spectrum disorder, attention deficit hyperactivity disorder, and behavioral and movement disorders [2]. West Syndrome, Lennox- Gastaut syndrome, and Ohtahara syndrome are the most common types of DEEs which show almost specific distinct phenotypes, however, a considerable number of patients do ...

Epilepsy contributes to a substantial proportion of the global burden of neurological disease, affecting 50–70 million people wordwide. [1,2] In the United Kingdom (UK) alone, seizures are the most common neurological cause of unscheduled hospital admissions. [3] People with epilepsy (PWE) are at significantly increased risk of premature death. [4–8] Some of those deaths may be entirely unrelated to their epilepsy, [5,9] for example in an assault or a pulmonary embolism. In such cases, the epilepsy is not mentioned anywhere ...

MicroRNAs (miRNAs) are small non-coding RNAs transcribed from independent miRNA genes that regulate gene expression in normal and pathological cellular processes. The TNRC6B gene (trinucleotide repeat containing 6 B, *610740) encodes a protein required to mediate translational inhibition by miRNA-guided mRNA cleavage [1]. This protein is associated with the Argonaute (Ago) family of proteins in the cytoplasm of the RNA-induced silencing complex (RISC), which leads to translational repression or mRNA degradation [1].

It is well established that despite the availability of numerous novel antiseizure medications (ASMs), one third of children with new-onset seizures will not achieve seizure remission [1–3]. These children endure the physical, psychological and social consequences of intractable seizures and face an elevated risk of death [4,5]. Despite its clinical importance, the early prediction of treatment outcome remains a major challenge [6], with only a limited number of large, community-based, long-term studies evaluating early predictors of medical refractoriness in childhood ...