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SCN1A Genetic Alterations and Oxidative Stress in Idiopathic Generalized Epilepsy Patients: A Causative Analysis in Refractory Cases.
Indian J Clin Biochem
January 2025
Multi-disciplinary Research Unit, Maulana Azad Medical College, New Delhi, India.
Single Nucleotide Polymorphisms (SNPs) have found it be associated with drug resistance in epilepsy. The purpose of this study was to determine the role of SCN1A gene polymorphism in developing drug resistance in idiopathic generalized epilepsy (IGE) patients, along with increased oxidative stress. The study was conducted at a tertiary care hospital in Delhi, India.
View Article and Find Full Text PDFAltered cytoskeleton dynamics in patient-derived iPSC-based model of PCDH19 clustering epilepsy.
Front Cell Dev Biol
January 2025
Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Protocadherin 19 (PCDH19) is an adhesion molecule involved in cell-cell interaction whose mutations cause a drug-resistant form of epilepsy, named PCDH19-Clustering Epilepsy (PCDH19-CE, MIM 300088). The mechanism by which altered PCDH19 function drive pathogenesis is not yet fully understood. Our previous work showed that PCDH19 dysfunction is associated with altered orientation of the mitotic spindle and accelerated neurogenesis, suggesting a contribution of altered cytoskeleton organization in PCDH19-CE pathogenesis in the control of cell division and differentiation.
View Article and Find Full Text PDFGenetic features and pharmacological rescue of novel Kv7.2 variants in patients with epilepsy.
J Med Genet
January 2025
Heilongjiang Provincial Key Laboratory of Child Development and Genetic Research, Harbin Medical University, Harbin, Heilongjiang, China
Background: Increasing evidence indicates a robust correlation between epilepsy and variants of the Kv7.2 () channel, which is critically involved in directing M-currents and regulating neuronal excitability within the nervous system. With the advancement of next-generation sequencing, the identification of variants has surged.
View Article and Find Full Text PDFThe impact of radiofrequency thermocoagulation on brain connectivity in drug-resistant epilepsy: Insights from stereo-electroencephalography and cortico-cortical evoked potentials.
Epilepsia
January 2025
Academic Center for Epileptology (ACE), Kempenhaeghe/Maastricht UMC+, Maastricht & Heeze, Maastricht, The Netherlands.
Objective: To investigate whether local lesions created by stereo-electroencephalography (SEEG)-guided radiofrequency thermocoagulation (RFTC) affect distant brain connectivity and excitability in patients with focal, drug-resistant epilepsy (DRE).
Methods: Ten patients with focal DRE underwent SEEG implantation and subsequently 1 Hz bipolar repetitive electrical stimulation (RES) for 30 s before and after RFTC. Root mean square (RMS) of cortico-cortical evoked potentials (CCEPs) was calculated for 15 ms to 300 ms post-stimulation with baseline correction.
RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis.
Mol Genet Genomic Med
January 2025
Department of Pediatrics, Taihe County People's Hospital, Fuyang, Anhui, China.
Background: Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of brain disorders. Variants in the Rho-related BTB domain-containing 2 gene (RHOBTB2) can lead to DEE64, which is characterized by early-onset epilepsy, varying degrees of motor developmental delay and intellectual disability, microcephaly, and movement disorders. More than half of the variants are located at Arg483 and Arg511 within the BTB domain; however, the underlying mechanism of action of these hotspot variants remains unexplored.
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