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Power Spectral Density and Default Mode Network Connectivity in Generalized Epilepsy Syndromes: What to Expect from Drug-Resistant Patients.
Biomedicines
December 2024
Neurology Department, Faculty of Medicine, University of Medicine and Pharmacy "Grigore T. Popa", 16 Universitatii Street, 700115 Iasi, Romania.
Recent studies have described unique aspects of default mode network connectivity in patients with idiopathic generalized epilepsy (IGE). A complete background in this field could be gained by combining this research with spectral analysis. An important objective of this study was to compare linear connectivity and power spectral densities across different activity bands of patients with juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), generalized tonic-clonic seizures alone (EGTCSA), and drug-resistant IGE (DR-IGE) with healthy, age-matched controls.
View Article and Find Full Text PDFSialidosis type 1 in a Turkish family: a case report and review of literatures.
J Pediatr Endocrinol Metab
December 2024
Department of Neurology, Ankara Etlik City Hospital, Ankara, Türkiye.
Objectives: Sialidosis type 1 is a rare autosomal recessive lysosomal storage disorder caused by pathogenic variants in the gene, which encodes the sialic acid-degrading enzyme α-neuraminidase. Sialidosis type 1 is a milder form with a late-onset phenotype, characterized by progressive myoclonic epilepsy and ataxia with cherry-red spots. Sialidosis type 2 is an early-onset and more severe form presenting with dysmorphic features, hepatosplenomegaly and cognitive delay.
View Article and Find Full Text PDFUnsupervised clustering of a deeply phenotyped cohort of adults with idiopathic generalized epilepsy.
Epilepsia
December 2024
Department of Neurology, Odense University Hospital, Odense, Denmark.
Objective: Idiopathic generalized epilepsy (IGE) in adults comprise juvenile myoclonic epilepsy (JME), juvenile absence epilepsy (JAE), and epilepsy with generalized tonic-clonic seizures alone (EGTCS), which are defined by their seizure types but also cover a broad endophenotype of symptoms. Controversy exists on whether adult IGE is a group of distinct diseases or a clinical spectrum of one disease. Here, we used a deeply phenotyped cohort to test the hypothesis that IGE comprises three distinct clinical entities.
View Article and Find Full Text PDFFelbamate as a therapeutic alternative to drug-resistant genetic generalized epilepsy: a systematic review and meta-analysis.
Neurol Sci
December 2024
The Division of Neurology at Nemours, Mayo Clinic, Jacksonville, FL, 32207, USA.
Introduction: The effect of felbamate (FBM) on genetic generalized epilepsy (GGE) remains largely unknown. The utilization of FBM has been limited due to its potential risk of aplastic anemia and hepatic failure. This study aimed to comprehensively evaluate the efficacy and safety of FBM in the treatment of drug-resistant GGE.
View Article and Find Full Text PDFPhenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.
Epilepsia
December 2024
Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
Objective: This study was undertaken to characterize the clinical and genetic features of patients with 22q11.2 deletion syndrome (22q11.2DS) and generalized epilepsy compared with 22q11.
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