Seizure

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, ...

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].

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].

Epilepsy is one of the most common brain disorders and affects over 50 million people worldwide [1]. It has been associated with several cardiovascular risk factors including inflammation, oxidative stress, insulin resistance, and high homocysteine level, and with an increased risk of cardiovascular events [2–4].

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 ...

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.

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 ...

Epilepsy is characterized by abnormal excessive synchronous discharge of brain neurons and remains one of the most common neurological disorders [1,2]. It is estimated that over 50 million people suffer from enduring predisposition of the brain to generate epileptic seizures [3,4], and approximately one-third of the patients are resistant to existing drugs [5]. Failure of seizure control usually causes cognitive and psychological impairment and can impose social and economic burdens [6]. Investigations of the mechanisms of epilepsy are urgently needed ...

Juvenile Myoclonic Epilepsy (JME) is an idiopathic generalized syndrome with onset during adolescence and early adulthood. Persons with JME have myoclonic seizures (100% of cases), myoclonic-tonic-clonic seizures or generalized tonic-clonic seizures (80-90% of cases), and absence seizures (30% of cases). Photosensitivity occurs in 30 to 40% of persons with JME [1]. JME is pharmacoresponsive epilepsy, but the recurrence rate is 80-90% [1].

In November 2015, the Brazilian Ministry of Health declared the Zika virus (ZIKV) outbreak a public health emergency following an increase in microcephaly cases, especially in northeastern Brazil. [1] Since the beginning of reports of children with Congenital Zika Syndrome (CZS), epileptic seizures are the main clinical complication in the first 4 months of life [2]; they tend to be early [3,4] and refractory. [4]