Clinical and epilepsy characteristics in Wolf-Hirschhorn syndrome (4p-): a review

Wolf-Hirschhorn syndrome (WHS; OMIM#194190) is a contiguous gene deletion syndrome affecting the terminal region of 4p [1–4]. Deletion 4p was first described in 1961 by Cooper and Hirschhorn in a child with defects of midline fusion, low birth weight, poor development, and seizures beginning soon after birth [5]. The partial monosomy in that patient represented the first example of such an observation in humans and consisted of the deletion of more than half of the short arm of chromosome 4 ...

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In memoriam: Ettore Beghi

The Italian and the International Leagues Against Epilepsy have announced, on behalf of the many colleagues and friends who knew him personally, the passing of Ettore Beghi on October 10th in Milan, Italy at the age of 75. He had been unexpectedly struck by a catastrophic illness with little or no hope he could fully recover.

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EPILEPSY AND STIGMA IN AFRICA: VIEWPOINT OF HEALTHCARE PROFESSIONALS AND COMBAT STRATEGIES

Epilepsy is a major public health problem in developing countries where most of the patients live. The health, sociocultural, economic and psychological consequences increase the burden. The illness is enmeshed in myths in developing as well as in developed countries. However, these myths are more pronounced in developing countries where several false and negative conceptions about the condition are rife [1,4]. The consequences are family and social isolation which makes epilepsy a social condition [5, 6].

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CUL4B-associated epilepsy: report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature.

Cabezas syndrome (OMIM 300354) is a rare syndromic form of X-linked intellectual disability caused by de novo or inherited variants in the CUL4B gene [1]. At least 83 cases (56 families) carrying CUL4B pathogenic variants have been reported to date [2]. The gene is located on chromosome Xq24, contains 22 exons and encodes the protein cullin 4B, belonging to the cullin-RING ubiquitin ligase family which regulates the degradation of cellular proteins [3]. Pathogenic mutations are heterogenous and include truncating, missense, ...

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Health Care Resource Utilization and Costs before and after Epilepsy Surgery

Approximately 1 in 26 people will develop epilepsy in their lifetime [1] and approximately 1 in 3 persons with epilepsy will be refractory to antiseizure medications (ASMs) [2]. In the United States of America (USA), with an estimated three million adults and half a million children with epilepsy [3], that translates into approximately one million people with refractory epilepsy [4, 5].

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Performance of the GAD-7 in adults with dissociative seizures

Dissociative seizures (DS) are commonly described as involuntary behaviours, movements and sensations which strongly resemble epileptic seizures or syncope but cannot be explained by these or other medical disorders [1–3]. DS are characterised by reduced self-control and typically involve impairment of awareness. The International Classification of Diseases-10 (ICD-10) classified them as dissociative (conversion) convulsions and the recent ICD-11 guidelines place them in the spectrum of ‘dissociative neurological symptom disorder’ [4, 5].

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Role of SERPINI1 pathogenic variants in familial encephalopathy with neuroserpin inclusion bodies: A case report and literature review

Neuronal inclusions that are associated with encephalopathies include neurofibrillary tangles in Alzheimer’s disease, Lewy bodies in Parkinson’s disease, inclusions containing TDP-43 in frontotemporal dementia, Lafora bodies in Lafora disease, and neuroserpin bodies in neuroserpinosis. Among these diseases, neuroserpinosis is an extremely rare disease that is caused by pathogenic variants of the SERPINI1 gene and is associated with variable phenotypes, including child-onset progressive myoclonus epilepsies (PME) and pre-senile dementia [1], which are collectively referred to as familial encephalopathy with neuroserpin inclusion ...

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Cannabidiol in Refractory Status Epilepticus: A Review of Clinical Experiences

Refractory status epilepticus is a life-threatening medical emergency in which patients suffering a seizure do not respond to a multitude of first-line agents, including benzodiazepines and antiepileptic medications. Within this disease state, two subcategorizations exist, however; it is important to note that New-Onset Refractory Status Epilepticus (NORSE) and Febrile Infection-Related Epilepsy Syndrome (FIRES) have not been well-defined. In 2018, an international consensus publication aimed to provide further clarity.

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Genotype and phenotype analysis of epilepsy caused by ADGRV1 mutations in Chinese children

ADGRV1 (previously known as GPR98, MASS1, or VLGR1) (OMIM 602851) encodes the adhesion G protein-coupled receptor (aGPCR) V1, which is a large calcium-binding protein widely expressed in the central nervous system. ADGRV1, the largest aGPCR, binds to Gi and signals to protein kinases A and C via Gq and Gs. The function of ADGRV1 has not been determined, but multiple calcium exchanger b-repeats in the ectodomain suggest a contribution to calcium-mediated protein-protein interactions1. The pathogenesis of the ADGRV1 variants that ...

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