Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
Precision therapies for genetic epilepsies in 2025: Promises and pitfalls
Epilepsia Open, EarlyView.Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang +3 more
wiley +1 more source
Absence seizures: Update on signaling mechanisms and networks
Epilepsia Open, EarlyView.Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley +1 more source
Neonatal seizures: Advances in diagnosis and management
Epilepsia Open, EarlyView.Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz +2 more
wiley +1 more source
Narcolepsy Type 2 in an Adolescent With Childhood Obstructive Sleep Apnea and Coexisting Absence Epilepsy: A Case Report. [PDF]
CureusSahu G, Saini VM, Nair S.
europepmc +1 more source
Current Advances in Childhood Absence Epilepsy
Pediatric Neurology, 2014 Background Childhood absence epilepsy is an age-dependent, idiopathic, generalized epilepsy with a characteristic seizure appearance. The disorder is likely to be multifactorial, resulting from interactions between genetic and acquired factors, but the ...
Sara Matricardi +2 more
exaly +9 more sources
Long-term outcome of childhood absence epilepsy: Dutch Study of Epilepsy in Childhood
Epilepsy Research, 2009 We determined long-term outcome and the predictive value of baseline and EEG characteristics on seizure activity evolution in 47 children with newly diagnosed childhood absence epilepsy (CAE) included in the Dutch Study of Epilepsy in Childhood.
Petra M C Callenbach +2 more
exaly +7 more sources
Linkage and mutational analysis of CLCN2 in childhood absence epilepsy
Epilepsy Research, 2007 In order to assess the chloride channel gene CLCN2 as a candidate susceptibility gene for childhood absence epilepsy, parametric and non-parametric linkage analysis was performed in 65 nuclear pedigrees. This provided suggestive evidence for linkage with
Kate Everett +2 more
exaly +2 more sources
Intellectual functioning in children with epilepsy: Frontal lobe epilepsy, childhood absence epilepsy and benign epilepsy with centro-temporal spikes [PDF]
Seizure: the Journal of the British Epilepsy Association, 2013 PurposeThe purpose of our study is to describe intellectual functioning in three common childhood epilepsy syndromes – frontal lobe epilepsy (FLE), childhood absence epilepsy (CAE) and benign epilepsy with centro-temporal spikes (BECTS).
Ana Filipa Lopes +1 more
exaly +2 more sources
Evaluation of CACNA1H in European patients with childhood absence epilepsy
Epilepsy Research, 2006 CACNA1H was evaluated in a resource of Caucasian European patients with childhood absence epilepsy by linkage analysis and typing of sequence variants previously identified in Chinese patients.
Barry A Chioza +2 more
exaly +2 more sources