childhood epilepsy
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2022 ◽  
Vol 127 ◽  
pp. 108496
Author(s):  
Anastasia Suraev ◽  
Melissa J. Benson ◽  
Lewis Martin ◽  
Nicholas Lintzeris ◽  
Iain S. McGregor

2022 ◽  
pp. 51-81
Author(s):  
Grace Yoonheekim Gombolay
Keyword(s):  

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Imalke Kankananarachchi ◽  
Eresha Jasinge ◽  
Gemunu Hewawitharana

Antiepileptics drugs are the mainstay of the management of epilepsy in children. Sodium valproate (VPA) and carbamazepine (CBZ) are widely used medications in childhood epilepsy. Hyperammonemia has been described as a known side effect of valproate therapy. It is known that VPA-associated HA is common among patients who hold genetic mutations of the carbomoyl phosphatase synthase 1 gene (CPS1). Aggravation of self-limited epilepsy with centrotemporal spikes (SLECTS) is a rare side effect of CBZ. Here, we present a child who had CBZ-induced aggravation of rolandic epilepsy and VPA-induced HA encephalopathy in the background of an unrecognised heterozygous gene variant of CPS1. An 8-year-old boy with SLECTS presented with a history of abnormal behaviours and drowsiness. He was apparently well until six years when he developed seizures in favour of rolandic epilepsy. His electroencephalogram (EEG) showed bilateral predominantly on the right-sided central-temporal spikes and waves. The diagnosis of SLECTS was made, and he was commenced on CBZ. Though he showed some improvement at the beginning, his seizure frequency increased when the dose of CBZ was increased. His repeat EEG showed electrical status in slow-wave sleep, and CBZ was stopped. Subsequently, he was started on VPA, and with that, he developed features of encephalopathy. He had elevated serum ammonia with normal liver functions. VPA was stopped with the suspicion of VPA-induced hyperammonemia. Tandem mass spectrometry did not show significant abnormality in the amino acid profile. Specific genetic analysis revealed a c.2756 C > T.p (Ser919Leu) heterozygote genetic mutation of the CSP 1 gene. This is a classic example where side effects of treatment determine the choice of antiepileptics drugs (AEDs) in childhood epilepsy. It is essential to keep in mind that SLECTS can be aggravated with certain AEDs, and VPA-induced HA in the absence of live failure could be due to underlying inherited metabolic disorders.


2021 ◽  
Vol 21 (2) ◽  
pp. 22-32
Author(s):  
Marwa H Wali ◽  
◽  
Mehdi SH Jebr ◽  
Najdat SH Mahmood

Background: Seizures are defined as a transient occurrence of signs and symptoms due to the abnormal, excessive, or synchronous neuronal activity in the brain characterized by abrupt and involuntary skeletal muscle activity. Seizure is related to specific risk factors like positive family history, fever, infections, neurological comorbidity, premature birth, mother’s alcohol abuse, and smoking in pregnancy. Epilepsy is the most frequent chronic neurologic condition in children. Studies have suggested declining incidence rates of childhood epilepsy in high-income countries during the last decades. Objective: To describe the clinical features and social findings of epilepsy in children, and to evaluate some risk factors associated with control of epilepsy. Patients and Methods: This cross-sectional study was conducted in the pediatric department of Albatool teaching hospital in Diyala province, Iraq. A total of 100 children were included in the study from February 2020 to May 2020. All children diagnosed with epilepsy in this study. Results: One hundred children with epilepsy, their mean age was 5.96± 3.33 years (range 1-14 years). Of the 48(48%) children were male and 52(52%). Of the total patients, 79% were free from seizure on AED, 21% of them were refractory to treatment.Patients without developmental delay (88.7%, p=0.012) can be controlled by AED. Patients who had idiopathic seizures (87.5%, p=0.04) can be controlled by AED. Patients who had seizure attacks can be controlled by AED more than patients who had weekly or monthly seizure attacks (97.4%) (p<0.001). Patients who had been treated by monotherapy (94.7%, p=0.012) can be controlled more than patients who were treated by multidrug therapy. Affected social interaction and need more supervision were factors that detected more in patients with refractory epilepsy, p=0.04, 0.01 respectively. While there was no association between frightened other people and epilepsy control. Conclusion: Most of the patients are characterized by: treatment approach monotherapy, less affected by social interaction and need less supervision. Patients with refractory epilepsy had opposite factors. Keywords: Epilepsy, Albatool teaching hospital.


2021 ◽  
Vol 12 ◽  
Author(s):  
Ruen Yao ◽  
Yunqing Zhou ◽  
Jie Tang ◽  
Niu Li ◽  
Tingting Yu ◽  
...  

Childhood epilepsy is a considerably heterogeneous neurological condition with a high worldwide incidence. Genetic diagnosis of childhood epilepsy provides the most accurate pathogenetic evidence; however, a large proportion of highly suspected cases remain undiagnosed. Accumulation of rare variants at the exome level as a multigenic burden contributing to childhood epilepsy should be further evaluated. In this retrospective analysis, exome-level sequencing was used to depict the mutation spectra of 294 childhood epilepsy patients from Shanghai Children’s Medical Center, Department of Neurology. Furthermore, variant information from exome sequencing data was analyzed apart from monogenic diagnostic purposes to elucidate the possible multigenic burden of rare variants related to epilepsy pathogenesis. Exome sequencing reached a diagnostic rate of 30.61% and identified six genes not currently listed in the epilepsy-associated gene list. A multigenic burden study revealed a three-fold possibility that deleterious missense mutations in ion channel and synaptic genes in the undiagnosed cohort may contribute to the genetic risk of childhood epilepsy, whereas variants in the gene categories of cell growth, metabolic, and regulatory function showed no significant difference. Our study provides a comprehensive overview of the genetic diagnosis of a Chinese childhood epilepsy cohort and provides novel insights into the genetic background of these patients. Harmful missense mutations in genes related to ion channels and synapses are most likely to produce a multigenic burden in childhood epilepsy.


2021 ◽  
Vol 8 ◽  
Author(s):  
Flavio Costa ◽  
Carlo Guardiani ◽  
Alberto Giacomello

The KCNA2 gene encodes the Kv1.2 channel, a mammalian Shaker-like voltage-gated K+ channel, whose defections are linked to neuronal deficiency and childhood epilepsy. Despite the important role in the kinetic behavior of the channel, the inactivation remained hereby elusive. Here, we studied the Kv1.2 inactivation via a combined simulation/network theoretical approach that revealed two distinct pathways coupling the Voltage Sensor Domain and the Pore Domain to the Selectivity Filter. Additionally, we mutated some residues implicated in these paths and we explained microscopically their function in the inactivation mechanism by computing a contact map. Interestingly, some pathological residues shown to impair the inactivation lay on the paths. In summary, the presented results suggest two pathways as the possible molecular basis of the inactivation mechanism in the Kv1.2 channel. These pathways are consistent with earlier mutational studies and known mutations involved in neuronal channelopathies.


2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Mariana L. Casalia ◽  
Juan Cruz Casabona ◽  
Corina García ◽  
Verónica Cavaliere Candedo ◽  
Héctor Ramiro Quintá ◽  
...  

Abstract Background Self-limited Childhood Epilepsies are the most prevalent epileptic syndrome in children. Its pathogenesis is unknown. In this disease, symptoms resolve spontaneously in approximately 50% of patients when maturity is reached, prompting to a maturation problem. The purpose of this study was to understand the molecular bases of this disease by generating and analyzing induced pluripotent stem cell-derived neurons from a family with 7 siblings, among whom 4 suffer from this disease. Methods Two affected siblings and, as controls, a healthy sister and the unaffected mother of the family were studied. Using exome sequencing, a homozygous variant in the FYVE, RhoGEF and PH Domain Containing 6 gene was identified in the patients as a putative genetic factor that could contribute to the development of this familial disorder. After informed consent was signed, skin biopsies from the 4 individuals were collected, fibroblasts were derived and reprogrammed and neurons were generated and characterized by markers and electrophysiology. Morphological, electrophysiological and gene expression analyses were performed on these neurons. Results Bona fide induced pluripotent stem cells and derived neurons could be generated in all cases. Overall, there were no major shifts in neuronal marker expression among patient and control-derived neurons. Compared to two familial controls, neurons from patients showed shorter axonal length, a dramatic reduction in synapsin-1 levels and cytoskeleton disorganization. In addition, neurons from patients developed a lower action potential threshold with time of in vitro differentiation and the amount of current needed to elicit an action potential (rheobase) was smaller in cells recorded from NE derived from patients at 12 weeks of differentiation when compared with shorter times in culture. These results indicate an increased excitability in patient cells that emerges with the time in culture. Finally, functional genomic analysis showed a biased towards immaturity in patient-derived neurons. Conclusions We are reporting the first in vitro model of self-limited childhood epilepsy, providing the cellular bases for future in-depth studies to understand its pathogenesis. Our results show patient-specific neuronal features reflecting immaturity, in resonance with the course of the disease and previous imaging studies.


2021 ◽  
pp. 088307382110567
Author(s):  
Julio Ramos-Lizana ◽  
Gema Martínez-Espinosa ◽  
Patricia Aguilera-López ◽  
Javier Aguirre-Rodriguez

Aim To determine the long-term probability of remission without antiepileptic treatment of common epileptic syndromes and of children without a specific syndromic diagnosis. Patients and methods All children less than 14 years old with 2 or more unprovoked seizures seen at our hospital between June 1, 1994, and March 1, 2011 (n = 680), were included and prospectively followed up until August 15, 2020. Syndromic diagnosis was made retrospectively but blinded to subsequent evolution, employing the data available at 6 months after diagnosis and under predefined operational criteria. Results The Kaplan-Meier estimate of the probability of achieving a remission period of at least 5 years, with neither seizures nor antiepileptic treatment at 14 years was 97% for well-defined childhood epilepsy with centrotemporal spikes, 82% for uncertain childhood epilepsy with centrotemporal spikes, 85% for well-defined Panayiotopoulos syndrome, 88% for uncertain Panayiotopoulos syndrome, 93% for nonfamilial self-limited infantile epilepsy, 100% for familial self-limited infantile epilepsy, 86% for absence epilepsy, 6% for juvenile myoclonic epilepsy, 71% for cryptogenic West syndrome, 72% for patients with no associated neurologic deficits and no specific syndromic diagnosis, 65% for symptomatic West syndrome, and 40% for patients with associated neurologic deficits and no specific syndromic diagnosis. Conclusions The study results highlight the long-term outcomes of the main epileptic syndromes and also of the patients with no syndromic diagnosis.


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