Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy

Gilsoul, Maxime; Grisar, Thierry; Delgado‐Escueta, Antonio V.; Nijs, Laurence de; Lakaye, Bernard

doi:10.3389/fncel.2019.00433

Cited by 27 publications

(11 citation statements)

References 204 publications

(258 reference statements)

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“…JME is characterized by myoclonic jerks (quick jerks of the arms or legs), GTCSs, and sometimes, absence seizures. Its onset typically begins around adolescence (between 12 and 18 years of age) in otherwise healthy children [ 64 ]. JME affects 5–10% of all cases of epilepsy which constitutes 18% of all cases of GGE [ 65 ].…”

Section: Genetic Studies Of Common Epilepsiesmentioning

confidence: 99%

Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment

Thakran

Guin

Singh

et al. 2020

IJMS

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Epilepsy, a neurological disease characterized by recurrent seizures, is highly heterogeneous in nature. Based on the prevalence, epilepsy is classified into two types: common and rare epilepsies. Common epilepsies affecting nearly 95% people with epilepsy, comprise generalized epilepsy which encompass idiopathic generalized epilepsy like childhood absence epilepsy, juvenile myoclonic epilepsy, juvenile absence epilepsy and epilepsy with generalized tonic-clonic seizure on awakening and focal epilepsy like temporal lobe epilepsy and cryptogenic focal epilepsy. In 70% of the epilepsy cases, genetic factors are responsible either as single genetic variant in rare epilepsies or multiple genetic variants acting along with different environmental factors as in common epilepsies. Genetic testing and precision treatment have been developed for a few rare epilepsies and is lacking for common epilepsies due to their complex nature of inheritance. Precision medicine for common epilepsies require a panoramic approach that incorporates polygenic background and other non-genetic factors like microbiome, diet, age at disease onset, optimal time for treatment and other lifestyle factors which influence seizure threshold. This review aims to comprehensively present a state-of-art review of all the genes and their genetic variants that are associated with all common epilepsy subtypes. It also encompasses the basis of these genes in the epileptogenesis. Here, we discussed the current status of the common epilepsy genetics and address the clinical application so far on evidence-based markers in prognosis, diagnosis, and treatment management. In addition, we assessed the diagnostic predictability of a few genetic markers used for disease risk prediction in individuals. A combination of deeper endo-phenotyping including pharmaco-response data, electro-clinical imaging, and other clinical measurements along with genetics may be used to diagnose common epilepsies and this marks a step ahead in precision medicine in common epilepsies management.

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Section: Genetic Studies Of Common Epilepsiesmentioning

confidence: 99%

Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment

Thakran

Guin

Singh

et al. 2020

IJMS

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“…Abnormalities in the hippocampus and parietal cortex usually result in mental disorders such as autism spectrum disorder and neurodegeneration ( 30 ). Previous studies have shown that sevoflurane reduces the protein expression levels of caspase-3 in the fetal brain ( 31 ).…”

Section: Discussionmentioning

confidence: 99%

Effects of sevoflurane general anesthesia during early pregnancy on AIM2 expression in the hippocampus and parietal cortex of Sprague‑Dawley offspring rats

Zhu

Liu

et al. 2021

Exp Ther Med

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The aim of the present study was to investigate the effect of exposure to sevoflurane general anesthesia during early pregnancy on interferon-inducible protein AIM2 (AIM2) expression in the hippocampus and parietal cortex of the offspring Sprague-Dawley (SD) rats. A total of 18 SD rats at a gestational age of 5-7 days were randomly divided into three groups: i) A control group (control); ii) 2-h sevoflurane general anesthesia, group 1 (S1); and iii) 4-h sevoflurane general anesthesia, group 2 (S2). The six offspring rats in each group were maintained for 30 days and assessed by Morris water maze testing. Brain specimens were collected from offspring rats 30 days after birth. Changes in the structural morphology of neurons in the hippocampus and parietal cortex were observed using hematoxylin and eosin staining. Nissl bodies in the hippocampus and parietal cortex were observed by Nissl staining. The expression of glial fibrillary acidic protein (GFAP), AIM2, CD45 and IL-1β was detected by immunohistochemistry and the protein levels of CD45, IL-1β, pro-caspase-1 and caspase-1 p10 were detected by western blotting. Compared with the control group, offspring rats in the S1 and S2 groups exhibited poor long-term learning and memory ability and experienced different degrees of damage to both the hippocampus and parietal cortex. The expression levels of GFAP, AIM2, CD45, IL-1β, caspase-1 and caspase-1 p10 in the offspring of both the S1 and the S2 groups were significantly increased (P<0.05) compared with offspring of the control group. Moreover, compared with the offspring of the S1 group, hippocampal and parietal cortex injury in the offspring of the S2 group was further aggravated, and the expression of GFAP, AIM2, CD45, IL-1β, pro-caspase-1 and cleaved-caspase-1 was significantly increased (P<0.05). In conclusion, sevoflurane general anesthesia in SD rat early pregnancy promoted the expression of AIM2 and the inflammatory response in the hippocampus and parietal cortex of offspring rats.

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“…The gene PRKCZ was thought to be necessary for regulating axonal differentiation and had been implicated in a variety of processes including cardiac muscle function [19,20] . The gene GABRD encodes the subunit of the GABAA receptors, plays an important role in mammalian brain development, and haploinsufficiency may be responsible for neurologic features [21] .…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of pure 1p36 terminal deletion by chromosome microarry analysis — clinical report of 3 new cases and review of the literature

et al. 2021

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Objective: we objective to present the experience on prenatal diagnosis of 1p36 terminal deletion, and further delineated the fetal presentation of the syndrome. Materials and methods:This was a retrospective analysis of three new prenatal cases 1 with pure 1p36 terminal deletion detected by chromosome microarray analysis (CMA) at a single Chinese medical center. We also reviewed 11 published prenatal cases with similar deletion sizes. Clinical data of all cases including indications for invasive testing, sonographic findings, maternal factors, and pregnancy outcomes were reviewed and analyzed. Results: Three new cases with pure 1p36 terminal deletion were prenatal diagnosed by CMA, the sizes of the deletion were 1.3 Mb, 5.0 Mb, and 4.9 Mb respectively. All cases were detected because of abnormal ultrasound findings, including central nervous system (CNS) abnormalities, congenital heart disease (CHD) and fetal growth restriction. Two pregnancies were terminated, and one was live-born but died three months after birth. Conclusions: The 1p36 terminal deletion results in many clinical manifestations, but the specificity of clinical features are not high. Prenatal sonographic findings such as CNS, CHD may act as suggestive signs of 1p36 deletion or other microdeletion/duplication syndromes.

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Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy

Cited by 27 publications

References 204 publications

Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment

Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment

Effects of sevoflurane general anesthesia during early pregnancy on AIM2 expression in the hippocampus and parietal cortex of Sprague‑Dawley offspring rats

Prenatal diagnosis of pure 1p36 terminal deletion by chromosome microarry analysis — clinical report of 3 new cases and review of the literature

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