BRAIN ELECTROENCEPHALOGIC ACTIVITY MAPPING ON CHILDHOOD EPILEPSY

With EEG, Computed Topography (CT) and Brain Electroencephalogic Activity Mapping (BEAM), we researched the changes on 64 epileptic children aged 4～14 years, to explore a clinical diagnostic significance. The BEAM technique-has proved to be particularly useful in establishing the focal origin of paroxystic activity in a high percentage of cases of partial epilepsies (91.2% ) and generalized epilepsies (90% ) and has shown particularly valuable and sensitive in localizing areas of brain function abnormality not detected by other diagnostic techniques.

Localization of epileptic foci in Children with childhood absence epilepsy by magnetoencephalography combined with synthetic aperture magnetometry

This present study was aimed to investigate the localizable diagnostic value of magnetoencephalography （MEG） combined with synthetic aperture magnetometry （SAM） in childhood absence epilepsy （CAE）. Thirteen CAE patients underwent MEG detection at resting state and after hyperventilation, and then the epileptic loci were located by SAM. In the thirteen CAE patients, epileptic foci were found in five cases （38.5%）, and they were all located in the bilateral frontal lobe, suggesting that the frontal lobe in some CAE patients may serve as the epileptic foci. Our findings indicate that MEG combined with SAM could be of diagnostic value in localizing the epileptic foci in certain CAE patients.

Case-control study and transmission/disequilibrium tests of the genes encoding GABRA5 and GABRB3 in a Chinese population affected by childhood absence epilepsy

Background Childhood absence epilepsy (CAE) is one of the most frequently recognized syndromes among the idiopathic generalized epilepsies (IGEs). CAE is considered to be a genetic disease, with a possible polygenic inheritance pattern. The genes responsible for CAE have not been identified yet. The object of this study was to investigate whether or not CAE is associated with the gene encoding the gamma-aminobutyric acid (GABA) type-A receptor subunits α5 (GABRA5) and β3 (GABRB3) in a Chinese population. Methods Five microsatellite DNA repeats, 69CA, 85CA, 155CA1, 155CA2, and A55CA1, adjoining chromosome 15q11-q13, were used as genetic markers. Both case-control study and transmission/disequilibrium tests (TDTs), as well as fluorescence-based semi-automated genotyping techniques, were used in 90 CAE patient-mother-father trios and 100 normal controls of Han ethnicity to conduct association analysis. Results The frequencies of allele 5 of 69CA, alleles 2 and 8 of 85CA, alleles 6 and 7 of 155CA1, allele 2 of 155CA2, and alleles 1 and 11 of A55CA1 were significantly higher in CAE patients than in normal controls. To prevent spurious associations arising from population admixture, we further conducted TDT tests in the 90 CAE trios. The results of TDT analysis further suggested that microsatellite DNA repeats 85CA, 155CA1, and 155CA2 were associated with CAE.Conclusions GABA type-A receptor subunit genes GABRA5 and GABRB3 may be either directly involved in the etiology of CAE in the Chinese population or in linkage disequilibrium with disease-predisposing sites.

Two cases of childhood absence epilepsy who showed seizure disappearance after ethosuximide drug eruption

Background Recent studies suggest potential roles of immune response in the pathophysiology of epilepsy.Anti-seizure medications(ASMs)are known to have side effects of drug eruption caused by immune responses.A few reports in adults have demonstrated disappearance of seizures after an ASM drug eruption episode.In this paper,we described 2 cases of childhood absence epilepsy(CAE)who showed seizure disappearance after ethosuximide(ESM)drug eruption,suggesting the possibility that the epilepsy disappears due to immune responses to ASM.Case presentation Case 1 was an 8-year-old girl diagnosed with CAE.She was treated with valproate acid(VPA)initially,and then ESM was administered as an additional treatment.Her epileptic seizure disappeared 4 days after initiation of ESM.However,drug eruption appeared 1 week after the administration of ESM.Even after discontinuation of ESM administration,she maintains no seizure after the drug eruption.Case 2 was a 5-year-old boy diagnosed as CAE.He was treated with VPA initially,and ESM was administered additionally.Drug eruption appeared 1 month after the administration of ESM.Even after ESM was terminated,he maintained seizure freedom after the appearance of eruption.Conclusions Epileptic seizures may have been suppressed due to the immune responses caused by ASM eruption.Further studies are needed to elucidate the pathophysiologic effects of drug eruption on epilepsy through immune responses.

Molecular and genetic insights into an infantile epileptic encephalopathy - CDKL5 disorder

BACKGROUND： The discovery that mutations in cyclin-dependent kinase-like 5 （CDKLS） gene are associated with infantile epileptic encephalopathy has stimulated world-wide research effort to understand the molecular and genetic basis of CDKL5 disorder. Given the large number of literature published thus far, this review aims to summarize current genetic studies, draw a consensus on proposed molecular functions, and point to gaps of knowledge in CDKL5 research. METHODS： A systematic review process was conducted using the PubMed search engine focusing on CDKL5 studies in the recent ten years. We analyzed these publications and summarized the findings into four sections： genetic studies, CDKL5 expression patterns, molecular functions, and animal models. We also discussed challenges and future directions in each section. RESULTS： On the clinical side, CDKL5 disorder is characterized by early onset epileptic seizures, intellectual disability, and stereotypical behaviors. On the research side, a series of molecular and genetic studies in human patients, cell cultures and animal models have established the causality of CDKL5 to the infantile epileptic encephalopathy, and pointed to a key role for CDKL5 in regulating neuronal function in the brain. Mouse models of CDKL5 disorder have also been developed, and notably, manifest behavioral phenotypes, mimicking numerous clinical symptoms of CDKL5 disorder and advancing CDKL5 research to the preclinical stage. CONCLUSIONS： Given what we have learned thus far, future identification of robust, quantitative, and sensitive outcome measures would be the key in animal model studies, particularly in heterozygous females. In the meantime, molecular and cellular studies of CDKL5 should focus on mechanism-based investigation and aim to uncover druggable targets that offer the potential to rescue or ameliorate CDKL5 disorder-related phenotypes.