Introduction: To determine the occurrence of neuroradiological abnormalities and to perform genotype-phenotype correlations in severe myoclonic epilepsy of infancy (SMEI, Dravet syndrome).
Patients And Methods: Alpha-subunit type A of voltage-gated sodium channel (SCN1A) mutational screening was performed by denaturing high-performance liquid chromatography (DHPLC) and multiplex ligation probe amplification (MLPA). MRI inclusion criteria were: last examination obtained after the age of 4 years on 1.5-T systems; hippocampal cuts acquired perpendicular to the long axis of the hippocampus; qualitative assessment was performed on T(1)-weighted, T(2)-weighted, proton density, and 1-3 mm thick coronal FLAIR images.
Results: We collected 58 SMEI patients in whom last MRI was performed at or later than 4 years of age. SCN1A mutations occurred in 35 (60%) cases. Thirteen (22.4%) out of 58 patients showed abnormal MRIs. Eight patients showed cortical brain atrophy of which 3 associated to ventricles abnormalities, 1 to cerebellar atrophy, 1 to white matter hyperintensity; 3 patients had ventricles enlargement only; 1 patient showed hippocampal sclerosis (HS); 1 had focal cortical dysplasia. Genotype-phenotype analysis indicated that abnormal MRIs occurred more frequently in patients without SCN1A mutations (9/23; 39.1%) compared to those carrying SCN1A mutations (4/35; 11.4%) (p=0.02).
Conclusion: Different brain abnormalities may occur in SMEI. Only one case with HS was observed; thus, our study does not support the association between prolonged febrile seizures and HS in SMEI. Abnormal MRIs were significantly more frequent in patients without SCN1A mutations. Prospective MRI studies will assess the etiological role of the changes observed in these patients.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1528-1167.2007.01020.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A high seizure burden increases brain concentrations of specialized pro-resolving mediators in the Scn1a mouse model of Dravet syndrome.
Prostaglandins Other Lipid Mediat
December 2024
Discipline of Pharmacology, Sydney Pharmacy School, Faculty of Medicine and Health, The University of Sydney, NSW 2050, Australia; Lambert Initiative for Cannabinoid Therapeutics, The University of Sydney, NSW 2050, Australia; Brain and Mind Centre, The University of Sydney, NSW 2050, Australia. Electronic address:
Objective: Dravet syndrome is a severe, intractable epilepsy in which 80 % of patients have a de novo mutation in the gene SCN1A. We recently reported that a high seizure burden increased hippocampal concentrations of an array of pro-inflammatory prostaglandins in the Scn1a mouse model of Dravet syndrome. This raised the possibility that a high seizure burden might also trigger the accumulation of specialized pro-resolving mediators that facilitate the resolution of neuroinflammation and brain repair.
View Article and Find Full Text PDFA comprehensive review of evolving treatment strategies for Dravet syndrome: Insights from randomized trials, meta-analyses, real-world evidence, and emerging therapeutic approaches.
Epilepsy Behav
January 2025
Division of Child Neurology, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA. Electronic address:
Dravet syndrome (DS) is a severe genetic developmental and epileptic encephalopathy, primarily caused by SCN1A gene mutations. Historically, treatments like clobazam and valproate have been used without evidence from randomized controlled trials (RCTs). However, the therapeutic landscape of DS has evolved with multiple RCTs demonstrating the efficacy and safety of three antiseizure medications (ASMs): stiripentol, cannabidiol (CBD), and fenfluramine.
View Article and Find Full Text PDFDe novo missense variant in a patient with Parkinson's disease.
Front Genet
November 2024
Department of Basic Medical Sciences, College of Medicine, Taibah University Medina, Medina, Saudi Arabia.
Article Synopsis
- Variants in the SCN1A gene are linked to various types of epilepsy and related conditions, such as Dravet syndrome and familial febrile seizures.
- This study focused on a patient with Parkinson's disease who did not exhibit epilepsy, using whole-exome sequencing to investigate the genetic basis of their condition.
- The researchers discovered a specific mutation in the SCN1A gene that may cause Parkinson's disease symptoms, indicating a connection between this gene and the onset of PD without epilepsy.
Voltage-Gated Ion Channel Compensatory Effect in DEE: Implications for Future Therapies.
Cells
October 2024
Institut de Recherches Servier, Rue Francis Perrin, 91190 Gif-sur-Yvette, France.
Developmental and Epileptic Encephalopathies (DEEs) represent a clinically and genetically heterogeneous group of rare and severe epilepsies. DEEs commonly begin early in infancy with frequent seizures of various types associated with intellectual disability and leading to a neurodevelopmental delay or regression. Disease-causing genomic variants have been identified in numerous genes and are implicated in over 100 types of DEEs.
View Article and Find Full Text PDFSex differences in cardiac mitochondrial respiration and reactive oxygen species production may predispose mice to cardiac arrhythmias and Sudden Unexpected Death in Epilepsy.
J Mol Cell Cardiol Plus
September 2024
East Tennessee State University, Quillen College of Medicine, Department of Biomedical Sciences, Johnson City, TN, United States of America.
Article Synopsis
- Dravet Syndrome (DS) is a severe epilepsy in children that increases the risk of Sudden Unexpected Death in Epilepsy (SUDEP), often linked to mutations in a specific gene affecting both the brain and heart.
- Research using a DS mouse model revealed significant sex-specific changes in cardiac mitochondrial function, with male mice showing reduced respiratory capacity and increased vulnerability to arrhythmias.
- The study highlights that males are more susceptible to these cardiac issues compared to females, suggesting that therapeutic approaches for SUDEP risk in DS should take sex differences into account.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!