Seizure

With a prevalence of 2%-4% in most Western countries and up to 8-10% in some areas of Japan [1-3], febrile seizures are, by far, the most common seizure type [4]. In addition, 30%-40% of children who had a first febrile seizure will have at least another febrile seizure within the next 2 years [5,6]. Although most febrile seizures do not damage the brain, cause cognitive sequelae, or increase the risk of future epilepsy, febrile seizures can be prolonged and evolve ...

Calcineurin is a crucial protein phosphatase that mediates calcium-dependent signaling by affecting the phosphorylation of numerous proteins [1]. It is encoded by the PPP3CA gene, which is widely expressed in the brain [2]. Calcineurin comprises a catalytic domain (calcineurin A, CnA) and a regulatory domain, which in turn includes three domains: calmodulin binding (CaMB), calcineurin B binding (CnBB) and an auto-inhibitory (AI) domain [3,4]. The activation of calcineurin involves the binding of calcium to calmodulin and calcineurin B, which causes ...

Polymicrogyria (PMG) is a malformation of cortical development (MCD), and is categorized under MCD secondary to abnormal postmigrational neuronal development [1–4]. In addition to a spectrum of neurological diseases, 65-87% of patients with PMG develop epilepsy, and the majority encounter seizure activity within the first five years of life[1]. Approximately 65% of patients with PMG-related epilepsy exhibit drug-resistant epilepsy (DRE). Epilepsy surgery should be explored in these patients with PMG-related DRE [1,5,6].

Adaptor protein complex 4-associated hereditary spastic paraplegias (AP-4-HSP) are a group of complex neurodegenerative disorders with childhood onset, caused by genetic defects that affect any of the four subunits of the AP-4 obligate complex. This is one of five related hetero-tetrameric complexes, devoted to selectively drive transmembrane cargo proteins into nascent vesicles, and build machinery for vesicle budding and transport. The AP-4 complex is especially involved in the sorting of cargo proteins involved in autophagy – autophagy protein 9A (ATG9A) ...

Epilepsy is characterized by recurrent episodes of paroxysmal brain dysfunction caused by sudden, synchronous, and excessive neuronal discharge. Focal cortical dysplasia (FCD) is a form of structural lesion with different sizes, locations, and histopathological manifestations [1]. It is characterized by abnormal non-neoplastic cell proliferation in the cerebral cortex, confined to a region of any lobe. FCD is the most common anatomical lesion identified in children, and the second most in adults with drug-resistant focal onset epilepsy [2,3].

Imprecise documentation of epileptic seizures based on patient-based reporting has been described in several inpatient- and outpatient investigations [2,3,7,12,19,23]. The lack of precision of patient reports affects semiological description and seizure classification based thereon [15] as well as underreporting and overreporting of seizure frequency [11,12]. As diagnostic decisions as to the classification of seizures as epileptic or non-epileptic, therapeutic decisions as to medical or non-medical treatment strategies and medicolegal evaluations as to driving and working capabilities have so far been ...

To report on a new phenotype in a patient carrying a novel, undescribed de novo variant in POLR3B, affected by generalized myoclonic epilepsy and neurodevelopmental disorder, without neuropathy. It is known that biallelic pathogenic variants in POLR3B cause hypomyelinating leukodystrophy-8, and heterozygous de novo variants are described in association to a phenotype characterized by predominantly demyelinating sensory-motor peripheral neuropathy, ataxia, spasticity, intellectual disability and epilepsy, in which the peripheral neuropathy is often the main clinical presentation.

Cerebral hyperperfusion syndrome (CHS) is a rare complication of carotid revascularization characterized by increased cerebral blood flow, causing symptoms like acute headaches, disorientation, focal neurological deficits, and seizures. Around 3% of individuals experience seizures, primarily due to cerebral edema from hyperperfusion [1]. There have been reports of generalized tonic-clonic seizures and localized motor status epilepticus caused by CHS following carotid artery stenting [1]. Here we present a case of recurrent epileptic seizures originating from different seizure networks that present as ...

In patients with drug-resistant epilepsy, especially those in the trajectory for epilepsy surgery, neuroimaging is crucial: identifying and delineating a lesion improves postoperative seizure outcome. MRI with higher field strength has an increased signal and contrast to noise ratio (SNR/CNR) leading to an increased spatial resolution. Since over a decade, research related to the application of ultra-high field MRI is increasing. Studies in patients with focal drug-resistant epilepsy, both with and without a lesion on “standard” 3T MRI images, show ...

Antibody-mediated autoimmune encephalitis (AE) denotes a set of immune-mediated, inflammatory central nervous system (CNS) disorders linked etiologically with neuronal autoantibodies. Early use of immunotherapy in AE, especially in those associated with neuronal cell surface antibodies, without an underlying malignancy is associated with excellent outcomes [1]. A pivotal investigation in diagnosis of AE, Electroencephalography (EEG) is very sensitive in demonstrating underlying nonconvulsive status epilepticus, generalized or focal slowing with epileptiform discharges in the early stages of the disease in nearly half ...