Seizure

The DYNC1H1 gene (OMIM* 600,112) encodes cytoplasmic dynein 1 heavy chain 1 (DYNC1H1), the critical subunit of the cytoplasmic dynein complex 1, which functions as a microtubule-associated protein and is essential for the retrograde transport of cargo in axons and dendrites [1–3]. The DYNC1H1 gene is widely expressed in multiple tissues throughout a lifespan, including the brain (https://www.proteinatlas.org/ENSG00000197102-DYNC1H1/tissue). In mice, homozygous knock-out DYNC1H1 lead to embryonic or perinatal death [4].

Genetic factors are accepted as one of the main causes of epilepsy. Many genes are associated with epilepsy (Devinsky [4]). However, the genetic causes of epilepsy in most patients remain unknown. Accurate regulation of mRNA processing is necessary for correct gene expression. Variants in several genes and proteins involved in mRNA processing have been implicated in human diseases (Haijes [10]) including epilepsy (Evans [5], Giacomini [8]). SCAF4 (OMIM*616023) encodes serine- and arginine-rich proteins related to carboxy-terminal domain-associated factor 4, which ...

In his title Dr. Finsterer raises questions as to the appropriateness of our methodology used in our publication regarding the incidence of COVID-19 in people with epilepsy (PWE) [1]. Without further elaboration, he suggests that “life cohorts” are required to undertake the analyses we have presented. He may confuse a research approach (Life Course Theory) with research design (prospective vs. historical cohort). We are at a loss to identify a role For Life Course Theory in the assessment of the ...

Letter to the Editor

Post-traumatic epilepsy (PTE) accounts for about 5% of all epilepsies and 20% of all epilepsies with a structural cause [1]. The risk of PTE after TBI ranges between 2 (mild TBI) and 17- fold (severe TBI) [2]. Clinical risk factors for PTE after TBI are the severity of head injury, the Glasgow Coma Scale (GCS) at admission, the length of post-traumatic amnesia (PTA), the length of coma and ICU admission as well as the occurrence of acute symptomatic seizures [2]. ...

The objective of this study is to evaluate the association between genetic polymorphisms and the concentration to dose ratio of topiramate in children with epilepsy.

Childhood occipital visual epilepsy (COVE), formerly called idiopathic childhood occipital epilepsy-Gastaut type, is a rare epilepsy syndrome that begins in later childhood [1]. This syndrome is characterized by frequent brief focal aware sensory seizures with visual phenomena during wakefulness, often followed by headache with migraine-like features [1]. Photosensitive occipital lobe epilepsy (POLE), previously included in Gastaut syndrome, is characterized by photic-induced focal aware seizures with visual phenomena [1].

Functional Seizures (FS) is a condition characterised by seizures which are not due to ictal epileptiform discharges in the brain that result in epilepsy, but which rather, are the result of psychological trauma or stressors. These seizures involve a paroxysmal disturbance in behaviour and cognitive functioning in relation to memory and consciousness [1]. It typically develops during adolescence or early adulthood; however, it can occur at any age, and is mostly associated with women [2]. Within the Diagnostic and Statistical ...

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Before the modern development of video-electroencephalography (vEEG), there was a transitional period in history when our forefathers utilized photography to record seizure episodes. Charcot was the first to introduce photography in his study of epilepsy and related conditions. Charcot coined the term “hystero-epilepsy” to refer to a condition in which people with “acquired” neuroses symptoms resembling seizures [1]. He collaborated with photographer Londe to use images to capture hysteric seizure events.