Seizure

Developmental and Epileptic Encephalopathies (DEEs) are rare neurological disorders characterized by the onset of drug-resistant multiple epileptic seizures within the first years of life, and severe developmental delays and regressions [1]. Although very rare, DEE can be caused by mutations in genes involved in metabolic pathways crucial to various cellular functions in multiple organs including the brain. In recent years, defects in the mitochondrial malate aspartate shuttle (MAS) have been reported to be presenting the clinical phenotype of infantile epileptic ...

Adolescence can be defined as a developmental stage marked by profound physical, social, and emotional changes during an individual’s identity develops as an independent person, bridging the gap between childhood and adulthood; this stage typically occurs between the ages of 11 to 19 [1,2]. Although some argue that definition of adolescence should be expanded to 10-24 years of age [3], regardless of its definition and age span, adolescence is a period of drastic changes and comes with its own challenges.

Purpose: to determine the yield of Video-Electroencephalogram (VEEG) in the first 24 hours in patients with a first unprovoked seizure and normal neurological examination, laboratory findings, and cranial CT scans. Methods: we analyzed retrospectively the yield of VEEG performed in these patients in the emergency department. All the patients were subsequently seen in the Epilepsy Clinic, and the epilepsy diagnosis was confirmed. Results: we included 19 patients who met the inclusion criteria; all of them underwent VEEG with the 10-20 ...

Sudden infant death syndrome (SIDS) is defined as the sudden death of an infant under one year of age, which remains unexplained after a thorough case investigation, including a complete autopsy, examination of the death scene, and review of the clinical history [1]. The ‘back to sleep’ campaign in the 1980ties, which recommended a supine sleeping position and a safe sleeping environment, contributed significantly to the decline of SIDS incidence [2]. However, the current incidence still adds up to 0.1 ...

Antiseizure medication (ASM) side effects are common in epilepsy care [1]. Tolerability is often studied in newly initiated epilepsy treatment, where early and intolerable side effects typically result in early ASM discontinuation [2]. A related, but separate, issue is the prevalence of side effects in persons with epilepsy after try-out of their ASM regimes. Residual side effects are not uncommon; milder symptoms can be considered tolerable by patients and physicians, particularly if an ASM results in seizure freedom.

Myoclonic Status in Non-Progressive Encephalopathies (MSNE) is a rare and intriguing epilepsy syndrome characterized by the early onset of continuous diffuse epileptiform abnormalities, concomitant myoclonic phenomena, and transient cognitive, motor, or behavioral disturbances [1]. This syndrome’s etiology encompasses three distinct categories: hereditary, structural brain malformations, and perinatal anoxic injury [2]. The following report details a case of MSNE associated with a mutation in the GRIN2A gene.

A seizure can be an early sign of acute stroke as well as a differential diagnosis. The clinical presentation of a seizure can be difficult to distinguish to those of an acute stroke, making them one of the most common “stroke mimics” [3]. Meanwhile, seizures “occurring in close temporal association with a documented brain insult” are called acute symptomatic seizures [6]. Among these acute symptomatic seizures after stroke, the subset of seizures occurring at the immediate onset of a stroke ...

Creatine plays a critical role in the regeneration of adenosine triphosphate (ATP) in the brain, muscle, and heart. Disorders of creatine synthesis or its transporter can lead to neurological impairment. SLC6A8 is an X-linked gene responsible for encoding the creatine transporter protein. A mutation in this gene can cause creatine transporter deficiency (CTD) which may hinder the uptake of creatine by brain and muscle cells(1). Inadequate amount of creatine will lead to decreased formation of phosphocreatine which is crucial in ...

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 ...