Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Purpose: ADAM23 is involved in neuronal excitability and interacts with LGI1, a known genetic risk factor for focal epilepsy. While ADAM23 has been linked to canine seizures, a recent gene-burden meta-analysis first nominated it as a risk gene for epilepsy in humans. Building on these findings, our study aimed to explore the significance of truncating ADAM23 variants in deeply phenotyped individuals with diverse seizure disorders.
Methods: We screened the exome sequencing data from 389 individuals with various seizure phenotypes for truncating variants in ADAM23. This report focuses on one individual harboring a heterozygous frameshift variant in ADAM23, selected for detailed analysis due to intriguing additional genetic findings.
Results: We identified a heterozygous frameshift variant (c.428del, p.Asn143Ilefs*26) in ADAM23 (NM_003812.4) in a patient with drug-resistant, MRI-negative focal epilepsy accompanied by additional neurocognitive and behavioral issues. The ADAM23 variant was inherited from an unaffected parent. Notably, the same individual carried inherited, truncating variants in two other brain-expressed, loss-of-function-intolerant genes: TNRC6A and MAPK8IP3.
Conclusion: These findings suggest that ADAM23 contributes to epilepsy with reduced penetrance, potentially influenced by oligogenic factors. Although descriptive and hypothesis-generating, our data underscore the complexity of currently unexplored genetic contributions to epilepsy.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.seizure.2025.08.027 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Laser Interstitial Thermal Therapy (LITT) in pediatric neurosurgery: Single center retrospective analysis of 41 consecutive procedures.
Neurochirurgie
September 2025
Necker Hospital, Departments of Pediatric Neurosurgery, Radiology, Pediatric Neurology and Anesthesiology; Reference Center for Rare Epilepsies CRéER, Member of ERN Epicare; APHP, Paris, France; Université de Paris Cité, Paris, France; Institut Imagine, INSERM U1163, Paris, France; Paris Kids Can
Introduction: Laser Interstitial Thermal Therapy under MRI control has emerged as a safe and efficient alternative to microsurgery in epilepsy and neurooncology procedures. Yet it has been used only recently in seldom European centers. Here, we report our 4 years' experience with LITT in children (complications, epileptic and oncologic outcomes).
View Article and Find Full Text PDFElectrographic seizures on responsive neurostimulation: An early and objective measure of response to cenobamate.
Epilepsy Res
August 2025
University of Colorado School of Medicine, Aurora, CO, USA.
Objectives: Responsive neurostimulation (RNS) electrocorticographic (ECoG) data may have a role in objectively assessing the efficacy of add-on antiseizure medications (ASMs). This retrospective, multicenter, observational, 24-week study is the first to report the effects of cenobamate on RNS-detected events (RDE).
Methods: Patients included adults (≥18 years) with a history of recurrent focal seizures and implanted RNS who initiated adjunctive cenobamate ≥ 3 months after RNS implant between 4/1/20-12/15/23 and who received ≥ 2 weeks of cenobamate (≥50 mg/day).
Clinical Phenotype, Predictors and Early Biomarkers of Dyskinetic Cerebral Palsy Prognosis.
Pediatr Neurol
August 2025
Department of Neurology & Neurosurgery, McGill University, Montréal, Québec, Canada; Department of Pediatrics, McGill University, Montréal, Québec, Canada.
Background: Dyskinetic cerebral palsy (DCP) is a severe subtype of cerebral palsy in which children often present substantial functional impairment and multiple comorbidities. Our knowledge of the clinical picture of DCP is limited and our understanding of which markers best predict later impairment is scarce. This study aims to describe the presentation of DCP and examine the value of gestational age (GA) and magnetic resonance imaging (MRI) findings as early markers of eventual DCP prognosis.
View Article and Find Full Text PDFCommon network related to hyperkinetic seizures revealed by functional lesion network mapping.
Epilepsia
September 2025
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Objective: This study aims to determine whether the anatomically heterogeneous lesions that cause hyperkinetic seizures (HKS) are connected to a common functional network.
Methods: We identified patients from the Beijing Tiantan-Fengtai Epilepsy Center with HKs as the primary ictal semiology. These included patients had focal seizure-onset zone, here referred to as a "lesion.
Phenobarbital Bioequivalence in Chinese Population: Considering the Role of Food on Pharmacokinetics.
Clin Pharmacol Drug Dev
September 2025
Shandong Xinhua Pharmaceutical Co., Ltd., Zibo, China.
Epilepsy is one of the most severe neurological disorders in the world, which might seriously endanger the lives of patients. Phenobarbital is an important medicine clinically used for the treatment of epilepsy, and it is irreplaceable in the treatment of generalized tonic-clonic seizures, focal seizures, status epilepticus, and pediatric epilepsy. However, the original research medicine of phenobarbital has not been launched in China.
View Article and Find Full Text PDF