Diagnosis and treatment of Status Epilepticus in Down Syndrome (DS): a case report and systematic literature review

Down Syndrome (DS) is the most frequent genetic-based cause of intellectual disability all over the world. DS can be caused by trisomy of chromosome 21 as well as balanced or non-balanced translocation involving the same chromosome [1]. Neurological comorbidities are frequently reported in individuals with DS, among which epilepsy is one of the most reported, accounting for about 26% of all affected individuals [2].

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Peri Ictal Water Drinking with Temporo-Insular onset: A Stereoelectroencephalography (SEEG) case.

Peri-ictal water drinking (PIWD) is the act of drinking water during an electroclinical seizure or up to two-minutes postictally [1,2]. PIWD is uncommon, although it has been reported in both children and adults with epilepsy, particularly with temporal lobe epilepsy (TLE). The current literature on PIWD consists solely of cases recorded with scalp-EEG [2]. PIWD has been associated with a localizing and lateralizing value, over the non-dominant temporal lobe. In this case, an evaluation using stereoelectroencephalography (SEEG) recordings was utilized ...

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Role of magnetoencephalography in predicting the epileptogenic zone and post-operative seizure outcome – A retrospective study

One-third of the patients with focal epilepsy are refractory to medical treatment and require surgical management [1]. Epilepsy surgery, done after meticulous pre-surgical evaluation leads to seizure freedom in about two-thirds of the patients with temporal lobe epilepsy and more than half of the patients with extra temporal lobe epilepsy [2]. Resection of epileptogenic zone (EZ) is the most important predictor of post-operative seizure outcome. Identification of EZ remains to be one of the greatest challenges in epilepsy surgery.

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The promises and pitfalls of seizure phenomenology

Language is demanded by epilepsy, as by poetry, that simply does not exist; and no amount of agility can create it any more than tight-rope walking or dancing can create wings. Language can, however … suggest that greater wordless language within from which mental and spiritual discovery issues. It can suggest truths which are the more certain for being inarticulate. – Margiad Evans, A Ray of Darkness [1](p172)

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Exploring causal correlations between systemic inflammatory cytokines and epilepsy: A Bidirectional Mendelian Randomization Study

Epilepsy is a neurological condition characterized by recurrent unprovoked seizures. Although anti-epileptic medications constitute the primary therapeutic approach, approximately 30% of individuals with epilepsy are refractory to drug treatment and must rely on alternative interventions, such as surgical procedures [1]. In recent years, and the advancement of research, particularly with regards to genome wide association studies (GWAS), there has been a growing discovery of a larger number of single nucleotide polymorphisms (SNPs) associated with epilepsy.

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Developmental and Epileptic Encephalopathy 82 (DEE82) with Novel Compound Heterozygous Mutations of GOT2 Gene

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 ...

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Machine learning-based classification of physiological and pathological high-frequency oscillations recorded by stereoelectroencephalography

Epilepsy is a chronic neurological disease characterized by recurrent seizures, which can potentially cause severe damage to the development and function of the brain. While a majority of patients may achieve a seizure-free status with the appropriate use of antiepileptic drugs, about 30% of the patients are drug-resistant [1] and require surgical intervention to achieve seizure freedom [2]. Complete resection of the epileptogenic zone (EZ) is essential for postoperative seizure control [3]. Epileptologists primarily rely on the seizure onset zone ...

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VIDEO-EEG IN THE FIRST 24 HOURS AFTER THE FIRST UNPROVOKED SEIZURE IN PATIENTS WITH NORMAL NEUROLOGICAL EXAMINATION AND HEAD CT SCAN

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 ...

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Determinants of felt-stigma in epilepsy: Is it the same story?

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.

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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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