Seizure

Reflex seizures refer to epileptic seizures triggered immediately or within a short delay by specific motor, sensory, or cognitive stimuli [1], [2]. Praxis induction (PI), one of the well-recognized reflex epileptic traits, is defined as the precipitation of seizures or epileptiform discharges (ED) by complex cognition-guided tasks often involving visuomotor coordination and decision-making, such as playing chess, cards, or other games; calculation; manipulation; drawing; and writing [3]. PI is strongly related to genetic generalized epilepsies, particularly juvenile myoclonic epilepsy (JME).

We read with interest the recent manuscript by Nasreddine et al [1] reporting total and free valproate concentrations from a randomized, double-blind, parallel group, multicenter, concentration-response design clinical trial that compared the safety and efficacy of two concentration ranges of divalproex. From the 265 adult and pediatric subjects enrolled in that trial, 902 synchronous values for total and free valproate concentration were obtained from 228 subjects. These data provided the basis for Nasreddine et al to perform multivariable analysis, which ...

Seizures are commonly seen in autoimmune encephalitis [1], a heterogeneous group of conditions associated with neural autoantibodies that frequently targets the cell surface and results in channelopathies, hyperexcitability and potential epileptogenicity [2,3]. A high prevalence of neural autoantibodies has been noted in focal epilepsies, with or without classic features of encephalitis ([4–6], [7]). These advances are noteworthy given targeted immunotherapeutic implications [8] and have been reflected in the most recent ILAE classification, with “immune etiology” listed alongside other classical epilepsy ...

Juvenile myoclonic epilepsy (JME) is the most common age related idiopathic generalized epilepsy corresponding to 5-11% of all epilepsies [1]. The myoclonic jerks of the arms, which occur especially after awakening, are the hallmark of this syndrome. Generalized tonic–clonic seizures (GTCS) occur in most patients, and one third of individuals also have absences. Patients frequently come to medical attention only after a generalized convulsion, and the history of earlier myoclonic jerks is often obtained retrospectively.

The modified Atkins diet (MAD) has been effectively used in children and adults with drug-resistant epilepsy (DRE) for almost two decades [1–7], however long-term compliance remains a major challenge to successful implementation [8,9]. KetoCal® is a ready-to-drink 4:1 ratio (fat: carbohydrates and protein in grams) nutritionally complete liquid formula that can be used as a meal substitute or supplement. A 2011 prospective study of 30 children with intractable epilepsy treated with MAD in combination with daily KetoCal® (powder mixed with ...

We report an unusual seizure phenotype in a girl with a de novo NAA10 pathogenic variant. X-linked NAA10 variants have been previously reported with syndromic, as well as non-syndromic intellectual disability, microcephaly, cardiac abnormalities and dysmorphisms. Defects in NAA10 have been delineated to cause Ogden syndrome, also known as n-terminal acetyl transferase deficiency (NATD). Ogden syndrome is an extremely rare X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, neonatal hypotonia progressing to hypertonia ...

Stroke-like migraine attacks after radiation therapy (SMART) is a late-onset complication of cranial irradiation, clinically characterized by headache, seizures and focal deficits, with suggestive MRI changes. Clinical and neuroimaging findings typically resolve after a few weeks [1]. Seizures or status epilepticus are reported in 69% of SMART patients [2,3].

Genetic generalised epilepsy (GGE) is a common childhood-onset epilepsy, which is associated with widespread social difficulties: reduced social competence, poor social skills and social communication deficits [1]. Social difficulties in GGE tend to persist, leading to social isolation and social stigma as adults [2]. In clinical practice, psychosocial problems are often undetected and untreated, partly because there is limited understanding of what underpins social difficulties in epilepsy, which is necessary for developing screening tools and empirically-validated treatments [3].

Inflammation and oxidative stress play important roles in the pathogenesis of neurodegenerative disease [1,2]. In recent experimental and clinical studies, it has been indicated that inflammation and oxidative stress can influence the beginning of an epileptic seizure as well as seizure recurrence [3,4].

Tuberous sclerosis (TSC) is an autosomal dominant inherited disease caused by mutations in the TSC1 or TSC2 gene and results in over-activation of the mammalian target of the rapamycin (mTOR) signaling pathway [1]. TSC produces hamartomatous lesions in the brain, kidney, skin, and other organs of the body. Epilepsy is observed in approximately 90% of patients with TSC, and approximately half of the patients have experienced infantile spasms (IS) and the majority are pharmacoresistant [2]. In children with TSC, uncontrolled ...