Seizure

The principal source of energy for mammalian brains is glucose [1]. Neurons are among the cells that consume the most energy and rely on a steady supply of glucose [2]. Despite accounting for only 2% of total body weight, the human brain consumes 20% of all glucose-derived energy, making it the leading glucose consumer [3]. Glucose metabolism is indirectly involved in ATP generation which provides energy that is essential for fundamental neuronal processes [4]. Furthermore, glucose metabolism produces energy (ATP) ...

The CACNA1A gene encodes the pore-forming α1 subunit of voltage-gated P/Q type Ca2+ channel (Cav2.1), which mediates the intracellular entry of Ca2+ ions. It is located in the chromosome locus 19p13.13, and is predominantly expressed in the central nervous system.[1] CACNA1A gene mutations are a well-known cause of familial hemiplegic migraine, episodic ataxia type 2 and spinocerebellar ataxia type 6.[2] CACNA1A mutations can be also associated with several epileptic phenotypes including typical absence seizures, focal seizures, and epileptic encephalopathies.

We have noticed an increasing trend towards epidemiological studies analyzing big data from health registers or insurance companies. The study groups report linkages between epilepsy, its treatment, and comorbidities, i.e. that epilepsy is related to dementia, that antiseizure medication is related to dementia, that mortality rates in epilepsy are rising, or that intrauterine exposure to folate or antiseizure medication are connected to later cancer or psychiatric illness [1–6]. Unfortunately, the media coverage of these often excellently published studies with simple, ...

Excitatory and inhibitory (E/I) network dysregulation significantly contributes to the pathogenesis of epilepsy. Neuroligins are postsynaptic cell adhesion molecules that play important roles in maintaining E/I synaptic signaling. The NLGN2 gene, located on 17p13.1, encodes a cell adhesion molecule that is expressed only in the postsynaptic membranes of inhibitory synapses, with high expression in the brain. While NLGN2 variants have been linked to schizophrenia, autism, and developmental delay [1], there are no reports of abnormal NLGN2 variants in patients with ...

Up to one-fourth of all cerebral cavernous malformations (CCM) affect the pediatric population [1–3]. Such lesions are a major cause of spontaneous intracerebral hemorrhage and may result in headaches, seizures, or focal neurological deficits [4]. A substantial number of lesions have a benign clinical course. However, some children suffer from CCM-related epileptic seizures (CRE), which are the most common trait of CCM disease. Pediatric CRE can lead to high morbidity, with particularly dreadful consequences in children and their development, given ...

Hypophosphatemia seems to be temporally associated with seizures, despite not being considered a trigger. We aimed to evaluate hypophosphatemia as a biomarker for seizures.

Delayed treatment in status epilepticus (SE) is independently associated with increased treatment resistance, morbidity, and mortality. We describe the prehospital management pathway and Emergency Medical Services (EMS) timeliness in children who developed refractory convulsive status epilepticus (RCSE).

To evaluate the efficacy and safety of cannabidiol (CBD) for the treatment of epilepsy in a real-world setting.

Epilepsy is one of the world’s most prevalent neurological diseases, affecting 50 million people globally [1]. Epilepsy significantly impairs patients’ quality of life (QOL). Previous studies of the QOL of patients with epilepsy (PWE) have focused primarily on higher-income countries; one systematic review found only 25 of 86 studies on QOLIE characterized populations outside of Europe or North America [1]. Despite this focus in the literature on higher income countries, approximately 80% of PWE reside in low and middle income ...

Coagulating much of the epileptogenic lesion (EL) is a favorable prognostic factor for radiofrequency thermocoagulation (RFTC) for focal epilepsy [1]. However, trajectory limitations exist due to the risk of brain tissue and vascular injury around coagulated lesions. It is sometimes challenging to coagulate the entire focus when the EL is large and/or extends over the eloquent area. We propose an RFTC focal disconnection technique that minimizes the number of lesions and trajectories through stereoelectroencephalography (SEEG) monitoring and cortical stimulation mapping ...