Seizure

Approximately 30% of patients with epilepsy have seizures that are refractory to anti-seizure medications (ASMs) [1–3]. The ketogenic diet (KD), a high-fat and low-carbohydrate diet, is effective for a subset of such patients [4,5]. Although the mechanism of the KD efficacy for epilepsy has not been fully elucidated, multiple mechanisms have been proposed and they may manifest anti-seizure effects in combination [6,7]. Recently, lactate dehydrogenase (LDH) inhibitors have been demonstrated to be a potential new target of ASMs based on ...

Knight and colleagues must be commended for their cross-sectional study from the UK Epilepsy and Pregnancy Register evidencing that children exposed to topiramate in utero had poorer levels of adaptive behaviour with a dose response effect [1].

Sturge-Weber Syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a rare neurocutaneous syndrome caused by a somatic mutation in the GNAQ gene [1]. The incidence of SWS is 1:50,000, and it affects both sexes equally [2]. The characteristic hallmarks of the disease include 1) unilateral facial nevus, 2) dural and leptomeningeal angiomatosis, 3) hemangiomas of the choroid, and 4) congenital glaucoma [3,4]. However, these findings may not always be present in patients; and although often viewed as a single pathologic ...

Several investigations have been conducted since the mid-nineteenth century to evaluate biological activity using non-invasive, quantitative, and repeatable measurements. The most significant contributions were made by the well-known physiologist and cinema pioneer Étienne-Jules Marey (1830-1904), who modified Karl von Vierordt’s (1818-1884) sphygmograph to detect the arterial pulse [1], invented a rudimentary precursor to the modern electrocardiogram [2] and explored the cinematographic reproduction of natural motor patterns (chronophotography) [3].

Tuberculosis (TB) is an infectious disease caused by the acid-fast bacillus Mycobacterium tuberculosis, affecting close to a quarter of the world’s population[1]. On the other hand, epilepsy is one of the most common neurological disease of the brain, affecting around 50 million people worldwide, and up to 10% of the population will have one epileptic seizure during their lifetime[2–4]. However, most people with epilepsy live in low- and middle-income countries where TB is endemic[5].

The KCNQ2 gene encodes voltage-gated potassium channel subunits that underlie the M-current, a repolarizing current that limits repetitive firing during long-lasting depolarizing inputs [1]. Mutations in this gene can result in disorders ranging from benign familial neonatal convulsions (BFNC) to early infantile developmental and epileptic encephalopathy (EIDEE) [2].

: Epilepsy surgery may be effective in some children with GATOR1 complex gene variants. Seizure outcomes may be compromised by extensive epileptogenic zones.

The FAT1 gene (OMIM *600796) encodes FAT atypical cadherin 1, a cell adhesion molecule that is important for cell migration, polarity, and cell-cell adhesion[1]. The FAT1 protein is broadly expressed and is predominant in the embryonic brain and other epithelial tissues[1,2]. Homozygous Fat1-knockout (KO) mice exhibit holoprosencephaly, anophthalmia, and perinatal lethality[3], suggesting an essential role of FAT1 in foetal growth. In humans, FAT1 variants have been reported in patients with disorders of the multisystem, including the central nervous system[4].

Epilepsy is one of the more common neurological disorders in the general population, affecting around 50 million people worldwide[1]. It affects 22.2% of people with intellectual disabilities (PwID)[2]. PwID and epilepsy often have seizures that are less well-controlled, of multiple types and are more likely to be resistant to single-drug treatments[3]. This population has increased levels of physical and psychological comorbidity[4–6]. Polypharmacy is common, including psychotropic and anti-seizure medications[4–6].

Symptomatic neurological diseases occur in about 40–70% of HIV/AIDS patients during the course of their illness [1–3], even in the era of combined anti-retroviral treatment (cART). Seizure is a common manifestation and plays an important role in the clinical presentation and quality of life of the HIV-infected patients [2,4]; therefore, it is of key concern owing to its lifelong impact and potential for causing brain damage [5]. Approximately 6.2–11% of HIV-infected patients had new-onset seizures [6–8].