Genetic generalized epilepsies (GGEs) are characterized by generalized spike-wave discharges (GSWDs) in electroencephalography (EEG) recordings without underlying structural brain lesions. The origin of the epileptic activity remains unclear, although several studies have reported involvement of thalamus and default mode network (DMN). The aim of the current study was to investigate the networks involved in the generation and temporal evolution of GSWDs to elucidate the origin and propagation of the underlying generalized epileptic activity.

The use of multidisciplinary teams (MDTs) is a global trend in disease management, while China is still at the exploratory stage MDTs. We aimed to summarize our experience and assess the impact of MDT use in managing patients with epilepsy and optimizing their seizure outcomes.

Although the cystine/glutamate antiporter System xc - (Sxc -) plays a permissive role in glioma-associated seizures, its contribution to other acquired epilepsies has not been determined. As such, the present study investigates whether and how Sxc - contributes to the pentylenetetrazole (PTZ) chemical kindling model of epileptogenesis.

Treatment with carbamazepine (CBZ), a potent enzyme inducer, is known to affect the lipid profile, steroid, and vitamin D metabolism. Consequently, it has been postulated that patients on CBZ should be switched to noninducing antiepileptic drugs (AEDs). However, little is known about the seizure outcome following a CBZ switch in seizure-free patients. We aimed to address this issue using a controlled observational study design.

Pontocerebellar hypoplasia type 6 (PCH6) is an autosomal recessive mitochondrial disease, typically characterized by pontine atrophy, vermian hypoplasia, infantile encephalopathy, generalized hypotonia, and intractable seizures. The purpose of this study is to describe the seizures and other neurological manifestations of RARS2 gene mutations and to compare the clinical features with other causes of progressive myoclonic epilepsy. Detailed history, physical examination, and clinical and genetic work-up were performed in 2 siblings who presented with progressive myoclonic epilepsy. One sibling, a 20-year-old woman, and the other a 24-year-old man, had a homozygous missense variant (c.848T>A; p.Leu283Gln) in exon 10 of the RARS2 gene. The female patient had action and audiogenic myoclonic jerks, postural tremors, spastic dysarthria, and bradykinesia, and her male sibling had similar features with oculomotor apraxia. The RARS2 gene mutation can present with myoclonic epilepsy, mental retardation, and pyramidal and extrapyramidal features, and is an important differential for causes of progressive myoclonic epilepsy.

Mesial temporal lobe epilepsy (TLE) with hippocampal sclerosis is a predominant form of acquired epilepsy, characterized by recurrent simple and complex partial seizures that are often resistant to treatment. Mice developing spontaneous recurrent nonconvulsive and convulsive seizures after intrahippocampal injection of the excitotoxic glutamate agonist kainate are thought to represent a valuable model of mesial TLE. Epileptic electroencephalogram (EEG) activity recorded in this model from the kainate focus in the ipsilateral hippocampus is resistant to antiseizure drugs such as carbamazepine (CBZ). We compared the efficacy of CBZ in this model in two different mouse strains (FVB/N and NMRI). Furthermore, we evaluated whether changes in the definition of electrographic seizures affect the antiseizure efficacy of CBZ.

Post-traumatic epilepsy (PTE) is a relatively underappreciated condition that can develop as a secondary consequence following traumatic brain injury (TBI). The aim of this rapid evidence review is to provide a synthesis of existing evidence on the effectiveness of treatment interventions for the prevention of PTE in people who have suffered a moderate/severe TBI to increase awareness and understanding among consumers. Electronic medical databases (n = 5) and gray literature published between January 2010 and April 2015 were searched for studies on the management of PTE. Twenty-two eligible studies were identified that met the inclusion criteria. No evidence was found for the effectiveness of any pharmacological treatments in the prevention or treatment of symptomatic seizures in adults with PTE. However, limited high-level evidence for the effectiveness of the antiepileptic drug levetiracetam was identified for PTE in children. Low-level evidence was identified for nonpharmacological interventions in significantly reducing seizures in patients with PTE, but only in a minority of cases, requiring further high-level studies to confirm the results. This review provides an opportunity for researchers and health service professionals to better understand the underlying pathophysiology of PTE to develop novel, more effective therapeutic targets and to improve the quality of life of people with this condition.

Benign epilepsy with centrotemporal spikes (BECTS, also known as Rolandic epilepsy) is a common epilepsy syndrome that is associated with literacy and language impairments. The neural mechanisms of the syndrome are not known. The primary objective of this study was to test the hypothesis that functional connectivity within the language network is decreased in children with BECTS. We also tested the hypothesis that siblings of children with BECTS have similar abnormalities.

Identifying individuals with rare epilepsy syndromes in electronic data sources is difficult, in part because of missing codes in the International Classification of Diseases (ICD) system. Our objectives were the following: (1) to describe the representation of rare epilepsies in other medical vocabularies, to identify gaps; and (2) to compile synonyms and associated terms for rare epilepsies, to facilitate text and natural language processing tools for cohort identification and population-based surveillance. We describe the representation of 33 epilepsies in 3 vocabularies: Orphanet, SNOMED-CT, and UMLS-Metathesaurus. We compiled terms via 2 surveys, correspondence with parent advocates, and review of web resources and standard vocabularies. UMLS-Metathesaurus had entries for all 33 epilepsies, Orphanet 32, and SNOMED-CT 25. The vocabularies had redundancies and missing phenotypes. Emerging epilepsies (SCN2A-, SCN8A-, KCNQ2-, SLC13A5-, and SYNGAP-related epilepsies) were underrepresented. Survey and correspondence respondents included 160 providers, 375 caregivers, and 11 advocacy group leaders. Each epilepsy syndrome had a median of 15 (range 6-28) synonyms. Nineteen had associated terms, with a median of 4 (range 1-41). We conclude that medical vocabularies should fill gaps in representation of rare epilepsies to improve their value for epilepsy research. We encourage epilepsy researchers to use this resource to develop tools to identify individuals with rare epilepsies in electronic data sources.

Epilepsy can occur in individuals with Down syndrome (DS), with epileptic spasms representing the most frequent seizure type in this population. Epileptic spasms can have devastating consequences on the development of individuals with the condition. This review sought to explore the lifetime prevalence and underlying mechanism of epileptic spasms in this population. We also aimed to review the response rate to various treatments, the relapse rate, and the development of subsequent epilepsy or autism in this population. A comprehensive literature search was conducted for articles discussing the lifetime prevalence, diagnosis, treatment, outcomes, or underlying etiology of epileptic spasms in animal models or individuals with DS. According to available literature, the global clinic-based lifetime prevalence of epilepsy in individuals with DS ranged from 1.6% to 23.1%, with epileptic spasms representing 6.7%-66.7% of these cases. Response rate to treatment with adrenocorticotropic hormone/corticosteroids was highest (81%) and has the most literature supporting its use, with other regimens, including vigabatrin and other antiepileptic drugs, having lower response rates. Epileptic spasms occur more frequently in children with DS than in the general population, though more studies are needed to determine the true lifetime prevalence of epileptic spasms in this population. Generally, children with DS and epileptic spasms tend to be more responsive to treatment and have better outcomes than children with epileptic spasms of unknown etiology (ie, without DS), in terms of response and relapse rates as well as the development of intractable epilepsy (eg, Lennox-Gastaut syndrome).

Infraslow activities and high-frequency oscillations (HFOs) are observed in seizure-onset zones. However, the relation between them remains unclear. In this study, we investigated phase-amplitude coupling between infraslow phase (0.016-1 Hz) and HFOs' amplitude of focal impaired awareness seizures followed by focal to bilateral tonic-clonic seizures, in a 28-year-old right-handed man with a dysembryoplastic neuroepithelial tumor. We recorded five habitual seizures. After the time of seizure onset, a significant increase in the power of HFOs was observed, and the power was significantly coupled with θ (4-8 Hz) phase. In contrast, coupling of infraslow activities and HFOs surged a few minutes before the seizure-onset time, and ictal HFOs discharged after that. Collectively, our results show that coupling of infraslow activities and HFOs precedes the seizure-onset time. We infer that such coupling may be a potential biomarker for seizure prediction.

Clinical and genetic predictors of response to antiepileptic drugs (AEDs) are largely unknown. We examined predictors of lacosamide response in a real-world clinical setting.

The lamotrigine-resistant amygdala kindling model uses repeated administration of a low dose of lamotrigine during the kindling process to produce resistance to lamotrigine, which also extends to some other antiseizure drugs (ASDs). This model of pharmacoresistant epilepsy has been incorporated into the testing scheme utilized by the Epilepsy Therapy Screening Program (ETSP). Although some ASDs have been evaluated in this model, a comprehensive evaluation of ASD prototypes has not been reported.

Infection with Theiler's murine encephalomyelitis virus (TMEV) in C57Bl/6J mice results in handling-induced seizures and is useful for evaluating compounds effective against infection-induced seizures. However, to date only a few compounds have been evaluated in this model, and a comprehensive study of antiseizure medications (ASMs) has not yet been performed. Furthermore, as the TMEV infection produces marked neuroinflammation, an evaluation of prototype anti-inflammatory compounds is needed as well.

This study aimed to evaluate glymphatic system function in temporal lobe epilepsy (TLE) patients with hippocampal sclerosis (HS) in comparison to healthy controls, using diffusion tensor imaging (DTI)-analysis along the perivascular space (ALPS) method. We hypothesized that there is glymphatic system dysfunction in TLE patients with HS.

The objective of this study is to estimate the prevalence of epilepsy with Tonic-Clonic (TC) seizures in rural areas of the Bolivian Gran Chaco and to evaluate the usefulness of telemedicine in this context.

Seizure threshold-2 (SZT2) gene variants have been associated with a decrease in seizure threshold resulting in variable phenotypic expressions ranging from mild-moderate intellectual disabilities without seizures, to an early-onset epileptic encephalopathy with severe cognitive impairment. In addition, hypotonia and distinctive facial dysmorphism, including a high forehead and to a lesser extent ptosis and down-slanting palpebral fissures, were present in the majority. We herein report a novel SZT2 variant in one of two siblings both diagnosed with epilepsy of infancy with migrating focal seizures (EIMFS). This report is the fourth to document a possible familial case in EIMFS, a condition that was not previously associated with SZT2 variant. This report expands the phenotypic expression of SZT2, corroborates the importance of genetic counseling in some cases of EIMFS, and highlights the efficacy of potassium bromide in controlling the seizures associated with this condition.

Video-encephalographic (vEEG) seizure recordings make essential contributions to the differentiation of epilepsy and psychogenic nonepileptic seizures (PNES). The yield of vEEG examinations can be increased through suggestive seizure manipulation (SSM) (ie, activation/provocation/cessation procedures), but its use has raised ethical concerns. In preparation for guidelines on the investigation of patients with PNES, the ILAE PNES Task Force carried out an international survey to investigate practices of and opinions about SSM. An online questionnaire was developed by the ILAE PNES Task Force. Questions were asked at clinical unit or individual respondent level. All ILAE chapters were encouraged to send questionnaires to their members. The survey was open from July 1, 2019, to August 31, 2019. A total of 487 clinicians from 411 units across 94 countries responded. Some form of SSM was used in 296/411 units (72.0%). Over 90% reported the use of verbal suggestion, over 80% the use of activation procedures also capable of eliciting epileptic activity (hyperventilation or photic stimulation). Only 26.3% of units used techniques specifically intended to provoke PNES (eg, saline injection). Fewer than 10% of units had established protocols for SSM, only 20% of units required written patient consent, in 12.2% of units patients received explicitly false information to provoke seizures. Clinicians using SSM tended to perceive no ethical problems, whereas those not using SSM were likely to have ethical concerns about these methods. We conclude that the use of invasive nocebo techniques intended to provoke PNES in diagnostic settings has declined, but SSM is commonly combined with activation procedures also capable of eliciting epileptic activity. While research suggests that openness about the use of PNES-specific nocebo techniques does not reduce diagnostic yield, very few units have suggestion protocols or seek patient consent. This could be addressed through establishing consensus guidance for the practice of SSM.

Electrical source imaging (ESI) is used increasingly to estimate the epileptogenic zone (EZ) in patients with epilepsy. Directed functional connectivity (DFC) coupled to ESI helps to better characterize epileptic networks, but studies on interictal activity have relied on high-density recordings. We investigated the accuracy of ESI and DFC for localizing the EZ, based on low-density clinical electroencephalography (EEG).

The majority of the screening questionnaires for epilepsy have been validated in hospital settings. We previously developed and used for field validation a screening tool to detect generalized tonic-clonic seizures (GTCS) in the rural communities of the Chaco region of Bolivia. The objective of the present study was to perform a hospital-based validation of the same questionnaire and to compare the levels of accuracy obtained when validated in the field or in a hospital-based context. We carried out a hospital-based validation in the Hospital Hernandez Vera of Santa Cruz, Bolivia, where we enrolled patients affected by epilepsy with GTCS and controls. Sensitivity, specificity, and positive and negative predictive values (PPV and NPV) were calculated. One hundred twenty questionnaires were administered to 59 patients (27 men [45.8%]; mean age ± SD = 32.4 ± 14.2 years) and 61 controls (27 men [44.3%]; mean age ± SD = 32.6 ± 14.3 years). We obtained levels of accuracy of 100%. Sensitivity and PPV were significantly higher than the estimates obtained in the field-validation study (sensitivity 100% vs 76.3%; PPV 100% vs 69.0%). Our screening questionnaire showed a significantly lower level of sensitivity when validated in the field, confirming that hospital-based validation can lead to an overestimation of sensitivity.