Seizure

The APC2 gene (OMIM *612034, also known as APCL) is widely expressed in the brain, predominantly in the cortex and hippocampus. It encodes adenomatous polyposis coli protein-2 (APC2), primarily distributed along actin fibers and microtubules throughout the neurites, growth cones, and cell bodies [1]. As involved in promoting microtubule dynamics and controlling dendritic development [1,2], APC2 plays an important role in regulating neuronal migration and axon guidance. In mice, homozygous knock-out of Apc2 caused impaired neuronal migration, growth retardation, and ...

The PHF21A gene is an important gene within the 11p11.2 region that encodes PHD finger protein 21A, which mediates the repression of neuron-specific genes through the cis-regulatory element repressor element-1 (RE1) or neural restrictive silencer (NRS) [1]. One study showed that the injection of zebrafish embryos with morpholinos against the PHF21A gene resulted in both neuronal apoptosis and craniofacial abnormalities. In addition, the study identified 3 patients with balanced translocations disrupting the PHF21A gene.

In a recent editorial “Big Data – Big Trouble: The two faces of publishing results from big data studies based on cohorts with poor clinical definition” published in Seizure 2023; 111:21–2 [1], von Wrede, Witt, and Helmstaedter expressed their concerns about “big-data” epidemiological investigations that are increasingly being published within epilepsy research. Their concerns relate to the potential for misinterpretation of evidence from epidemiological studies by media, lays, and even health care professionals and criticise big-data studies for lacking credibility ...

Genetic generalized epilepsy (GGE), formerly known as idiopathic generalized epilepsy, comprise a broad group of genetically determined epileptic syndromes in approximately a quarter of epilepsies [1]. Based on the main seizure types and age at onset, the four common GGE syndromes are juvenile myoclonic epilepsy (JME), juvenile absence epilepsy (JAE), childhood absence epilepsy (CAE), and epilepsy with generalized tonic-clonic seizures alone (EGTCS). Previous twin studies and pedigree analyses have demonstrated the high heritability of GGE [2,3].

Mesial temporal lobe epilepsy (mTLE) is the most common medically intractable but surgically remediable epilepsy in adults, with a characteristic seizure semiology and unilateral EEG onset. [1,2] The hippocampus is commonly regarded as the seizure focus in mTLE, with widespread cortical and subcortical regions involved. [3,4] As the most established therapeutic procedure for refractory mTLE, anterior temporal lobectomy (ATL) resects the hippocampus and adjacent mesial temporal structures, offering a favorable seizure-freedom rate of 60-70%.

The ATPase H+ transporting V1 subunit A gene (ATP6V1A; MIM: 607027), which resides on chromosomal locus 3q13.31, is predominantly expressed in the brain especially in frontal cortex, hypothalamus, and hippocampus (https://www.gtexportal.org/home/gene/ATP6V1A). It encodes a 69 kDa V-type proton ATPase catalytic subunit A (ATP6V1A) that is primarily distributed at cytoplasm membrane, cytoplasmic vesicles, and lysosomes [1–4]. The ATP6V1A protein is the A-subunit of the V1 domain of the vacuolar-ATPase (V-ATPase), which plays a critical role in pH homeostasis, intracellular signaling pathways, neurotransmitter ...

Dear Sir,

Stigma is characterized as an attribute that profoundly discredits an individual. It encompasses the notion that someone deviates from what society expects. For many people living with epilepsy (PLWE), this stigma poses a considerable challenge [1]. Stigma related to epilepsy can be categorized as felt stigma (FS) and enacted stigma. FS includes anticipating negative views from others and internalizing these views, leading to self-stigmatization. Enacted stigma refers to actual discrimination based on a person’s condition [2].

To the Editor,

Late-onset epilepsy is a unique entity compared to that in younger adults. After age 65, the clinicodemographic characteristics defining the condition diverge significantly from that in younger adults [1]. The aetiologies underlying late-onset epilepsy differ substantially, with strokes, neurodegenerative diseases, and brain tumours frequently reported as the primary underlying cause, where it is known [2]. Increasing longevity, coupled with the attendant rise of these associated conditions, likely accounts for the rising incidence of late-onset epilepsy in the Western world over ...