Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy
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DOI: 10.1002/ana.24886
Abstract: To determine whether common polymorphisms in CACNA1G, CACNA1H, CACNA1I, and ABCB1 are associated with differential shortâterm seizure outcome in childhood absence epilepsy (CAE). read more here.
Keywords: pharmacogenetics antiepileptic; childhood absence; absence epilepsy;
Identification of a novel variant p.Ser606Gly in SCN3A associated with childhood absence epilepsy
Sign Up to like & getrecommendations! Published in 2021 at "Epilepsy Research"
DOI: 10.1016/j.eplepsyres.2021.106682
Abstract: Sodium (Na+) channels are the basis for action potential generation and propagation, which play a key role in the regulation of neuronal excitability. SCN3A is a gene encoding for sodium channel protein type 3 subunit… read more here.
Keywords: epilepsy; absence; childhood absence; variant ... See more keywords
Mutational screening of GABRG2 gene in Pakistani population of Punjab with generalized tonic clonic seizures and children with childhood absence epilepsy
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the Chinese Medical Association"
DOI: 10.1016/j.jcma.2018.05.001
Abstract: Background: Epilepsy is a multifaceted and multistep disorder that disrupts the proper functioning of neurons. It is becoming increasingly clear that the responsiveness of neurons depends on the appropriate trafficking of ions across the channels… read more here.
Keywords: epilepsy; gabrg2; childhood absence; absence epilepsy ... See more keywords
Ictal connectivity in childhood absence epilepsy: Associations with outcome
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DOI: 10.1111/epi.14067
Abstract: The understanding of childhood absence epilepsy (CAE) has been revolutionized over the past decade, but the biological mechanisms responsible for variable treatment outcomes are unknown. Our purpose in this prospective observational study was to determine… read more here.
Keywords: connectivity; childhood absence; absence epilepsy;
Perampanel and childhood absence epilepsy: A real life experience
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.952900
Abstract: Objectives The aim of our study was to evaluate the effectiveness and tolerability of perampanel (PER) as first add-on and as second line monotherapy in subjects with childhood absence epilepsy. Methods Our sample consisted of… read more here.
Keywords: real life; absence epilepsy; seizure free; absence ... See more keywords