Exome analysis focusing on epilepsy-related genes in children and adults with sudden unexplained death

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 ...

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Prevalence and nature of patient-reported antiseizure medication side effects in a Swedish regional multi-center study

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.

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Myoclonic Status Epilepticus in Non-progressive Encephalopathies within the GRIN2A-Associated Epilepsy-Aphasia Spectrum

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.

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Seizures at stroke onset: a case-control study

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 ...

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A Case of Drug-Resistant Epilepsy and Autism with de novo SLC6A8 Gene Variant

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 ...

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DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders

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].

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SCAF4 variants are associated with epilepsy with neurodevelopmental disorders

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 ...

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Reply to Letter to the Editor regarding our report titled Incidence, severity and outcomes of COVID-19 in age and gender matched adults with and without epilepsy in Moscow: A historical cohort study

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 ...

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Reduced total number of enlarged perivascular spaces in post-traumatic epilepsy patients with unilateral lesions – a feasibility study

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]. ...

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