Epilepsy

CACNA1H genetic variants were originally reported in a childhood absence epilepsy cohort. Subsequently, genetic testing for CACNA1H became available and is currently offered by commercial laboratories. However, the current status of CACNA1H as a monogenic cause of epilepsy is controversial, highlighted by ClinGen's recent re-classification of CACNA1H as disputed. We analyzed published CACNA1H variants and those reported in ClinVar and found none would be classified as pathogenic or likely pathogenic per the ACMG classification criteria...

Genetic variants in brain-expressed voltage-gated sodium channels (SCNs) have emerged as one of the most frequent causes of Mendelian forms of epilepsy and neurodevelopmental disorders (NDDs). This review explores the biological concepts that underlie sodium channel NDDs, explains their phenotypic heterogeneity, and appraises how this knowledge may inform clinical practice. We observe that excitatory/inhibitory neuronal expression ratios of sodium channels are important regulatory mechanisms underlying brain development, homeostasis, and neurological diseases...

This article emphasizes the role of the technological progress in changing the landscape of epilepsy surgery and provides a critical appraisal of robotic applications, laser interstitial thermal therapy, intraoperative imaging, wireless recording, new neuromodulation techniques, and high-intensity focused ultrasound. Specifically, (a) it relativizes the current hype in using robots for stereo-electroencephalography (SEEG) to increase the accuracy of depth electrode placement and save operating time; (b) discusses the drawback of laser interstitial thermal therapy (LITT) when it comes to the need for adequate histopathologic specimen and the fact that the concept of stereotactic disconnection is not new; (c) addresses the ratio between the benefits and expenditure of using intraoperative magnetic resonance imaging (MRI), that is, the high technical and personnel expertise needed that might restrict its use to centers with a high case load, including those unrelated to epilepsy; (d) soberly reviews the advantages, disadvantages, and future potentials of neuromodulation techniques with special emphasis on the differences between closed and open-loop systems; and (e) provides a critical outlook on the clinical implications of focused ultrasound, wireless recording, and multipurpose electrodes that are already on the horizon...

PURPOSE OF REVIEW: This article reviews current knowledge on epidemiology, risk factors and causes, diagnostic considerations, management, and prognosis of ischemic stroke in young adults (those 55 years old and younger). RECENT FINDINGS: The incidence of ischemic stroke in young adults has been increasing since the 1980s, which has occurred in parallel with increasing prevalence of vascular risk factors and substance abuse among the younger population. Young adults have a considerably wider range of risk factors than older patients, including age-specific factors such as pregnancy/puerperium and oral contraceptive use...

No abstract text is available yet for this article.

PURPOSE: The 2017 epilepsy and seizure diagnosis framework emphasizes epilepsy syndromes and the etiology-based approach. We developed a propositional artificial intelligence (AI) system based on the above concepts to support physicians in the diagnosis of epilepsy. METHODS: We analyzed and built ontology knowledge for the classification of seizure patterns, epilepsy, epilepsy syndrome, and etiologies. Protégé ontology tool was applied in this study. In order to enable the system to be close to the inferential thinking of clinical experts, we classified and constructed knowledge of other epilepsy-related knowledge, including comorbidities, epilepsy imitators, epilepsy descriptors, characteristic electroencephalography (EEG) findings, treatments, etc...

OBJECTIVE: The aim of this study was to examine the structural changes in brain on magnetic resonance imaging (MRI) in severely malnourished children before and after treatment. METHODS: This was a prospective study conducted at a Severe Malnutrition Treatment Unit (SMTU) at a tertiary care center. The study was carried out with 52 severely malnourished children 0 to 5 y of age admitted to the SMTU. The cases with neurologic diseases such as epilepsy, cerebral palsy, meningitis, tumor, or hydrocephalus; or history of perinatal asphyxia were excluded to enable us to detect central nervous system changes attributable to malnutrition only...

No abstract text is available yet for this article.

BACKGROUND: A sensitive balance between receptor activation and desensitization is crucial for cellular homeostasis. Like many other GPCR, the human neuropeptide Y2 receptor (hY2 R) undergoes ligand dependent activation and internalization into intracellular compartments, followed by recycling to the plasma membrane. This receptor is involved in the pathophysiology of distinct diseases e.g. epilepsy and cancer progression and conveys anorexigenic signals which makes it an interesting and promising anti-obesity target...

OBJECTIVE: To better understand the humanistic and economic burden of focal seizures in children 2-12 years old. METHODS: We conducted a targeted literature review by searching MEDLINE for English-language publications reporting on children 2-12 years old with focal seizures published in the United States since 2008. RESULTS: Thirty-five publications were included. Incidence of focal seizures was 23.2 to 47.1 per 100,000 children per year; prevalence was 2...

<u>Introduction:</u> Electric source imaging (ESI) refers to the estimation of the cerebral sources of electric signals recorded at the head surface using electroencephalography (EEG). Thanks to the availability of EEG systems with high numbers of electrodes and to progress in software to analyze the signals they collect, ESI can be applied to epilepsy-related pathological EEG signals like interictal spikes and seizures.<u>Areas covered:</u> In this narrative review, we discuss selected original research articles on the use of ESI in epilepsy patients considered for surgery...

Postnatal administration of high-fat, low-carbohydrate ketogenic diets (KDs) is an established and effective treatment option for refractory epilepsy, with more recently identified therapeutic potential across a wide range of preclinical models of neurological and psychiatric disorders. However, the impact of gestational exposure to a KD (GKD) on offspring development remains unclear. Previous work has found that GKD exposure reduces depression- and anxiety-like behaviors in CD-1 mice, whereas postnatal KD improves sociability in several different rodent models of autism...

Critical care long-term continuous electroencephalogram (cEEG) monitoring has expanded dramatically in the last several decades spurned by technological advances in EEG digitalization and several key clinical findings: 1-Seizures are relatively common in the critically ill-large recent observational studies suggest that around 20% of critically ill patients placed on cEEG have seizures. 2-The majority (~75%) of patients who have seizures have exclusively "electrographic seizures", that is, they have no overt ictal clinical signs...

Voltage-gated potassium (Kv) channels are widely expressed in the central and peripheral nervous system and are crucial mediators of neuronal excitability. Importantly, these channels also actively participate in cellular and molecular signaling pathways that regulate the life and death processes of neurons. The current study used a kainic acid (KA)-induced temporal lobe epilepsy model to examine the role of the Kv10.2 gene in status epilepticus (SE). Lentiviral plasmids containing the coding sequence region of the KCNH5 gene (LV-KCNH5) were injected into the CA3 subarea of the right dorsal hippocampus within 24 h in post-SE rats to rescue Kv10...

OBJECTIVE: To investigate how high frequency oscillations (HFOs; ripples 80-250 Hz, fast ripples (FRs) 250-500 Hz) and spikes in intra-operative electrocorticography (ioECoG) relate to cognitive outcome after epilepsy surgery in children. METHODS: We retrospectively included 20 children who were seizure free after epilepsy surgery using ioECoG and determined their intelligence quotients (IQ) pre- and two years postoperatively. We analyzed whether the number of HFOs and spikes in pre- and postresection ioECoGs, and their change in the non-resected areas relate to cognitive improvement (with ≥ 5 IQ points increase considered to be clinically relevant (=IQ+ group) and < 5 IQ points as irrelevant (=IQ- group))...

Structural Maintenance of Chromosomes (SMCs) are part of a large family of ring complexes that participates in a number of DNA transactions. Among SMCs, SMC1A gene is unique. It encodes a subunit of the cohesin-core complex that tethers sister chromatids together to ensure correct chromosome segregation in both mitosis and meiosis. As a member of the cohesin ring, SMC1A takes part in gene transcription regulation and genome organization; and it participates in the DNA Damage Repair (DDR) pathway, being phosphorylated by Ataxia Telangiectasia Mutated (ATM) and Ataxia Telangiectasia and Rad3 Related (ATR) threonine/serine kinases...

5-lipoxygenase (ALOX5) is an enzyme involved in arachidonic acid (AA) metabolism, a metabolic pathway in which cysteinyl leukotrienes (CysLTs) are the resultant metabolites. Both ALOX5 and CysLTs are clinically significant in a number of inflammatory diseases, such as in asthma and allergic rhinitis, and drugs antagonizing the effect of these molecules have long been successfully used to counter these diseases. Interestingly, recent advances in 'neuroinflammation' research has led to the discovery of several novel inflammatory pathways regulating many cerebral pathologies, including the ALOX5 pathway...

Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder that is characterized by cellular and tissue dysplasia in With the advent of genetic and molecular techniques, mutations in TSC1 or TSC2 genes were discovered to be responsible for mTOR overactivation, which is the underlying mechanism of pathogenesis. TSC is a highly heterogenous clinical entity with variable presentations and severity of disease. The brain, heart, skin, eyes, kidneys, and lungs are commonly involved in this syndrome, with the neurologic symptoms comprising a significant source of morbidity and mortality...

BACKGROUND: X-linked intellectual disability type Nascimento, also known as UBE2A deficiency syndrome, is an intellectual disability syndrome characterized by moderate to severe intellectual disability, dysmorphic facial features, speech impairment, genital anomalies and skin abnormalities. The syndrome is caused by mutations of the UBE2A gene, or larger deletions of Xq24 encompassing UBE2A. METHODS: We report the case of a 19 years old male with UBE2A deficiency syndrome, who showed severe intellectual disability and seizures...

A combination of Angelicae Dahuricae Radix and Acori Tatarinowii Rhizoma has been widely used as the herb-pair in traditional Chinese medicine to treat stroke, migraine and epilepsy. However, the underlying synergistic mechanism of the herb-pair remains unknown. This study was aimed at investigating the effects of Acori Tatarinowii Rhizoma volatile oil on the pharmacokinetic parameters of xanthotoxol, oxypeucedanin hydrate and byakangelicin from Angelicae Dahuricae Radix in rat, and in vitro absorption behavior of the three compounds using rat everted gut sac, in situ single-pass intestinal perfusion and Caco-2 cell monolayer models...