Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures
نویسندگان
چکیده
منابع مشابه
The electroclinical-semiology of generalized tonic-clonic seizures among different epilepsies.
OBJECTIVE The study reported here discusses the duration of the generalized tonic-clonic seizures (GTCS) among frontal lobe epilepsy (FLE), medial temporal lobe epilepsy (MTLE) and idiopathic generalized epilepsy (IGE). PATIENTS AND METHODS The study was done by analyzing the data from patients who had undergone video-EEG in 2009 and had GTCS during the monitoring. The patients were selected ...
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Sudden unexpected death in epilepsy (SUDEP) is the most common cause of death in intractable epilepsies, but physiological mechanisms that lead to SUDEP are unknown. Dravet syndrome (DS) is an infantile-onset intractable epilepsy caused by heterozygous loss-of-function mutations in the SCN1A gene, which encodes brain type-I voltage-gated sodium channel NaV1.1. We studied the mechanism of premat...
متن کاملDo generalized tonic-clonic seizures in infancy exist?
OBJECTIVE To determine the frequency of generalized tonic-clonic seizures (GTCS) in infants (1 month to 2 years). METHODS From a total of 2,112 patients monitored in our video-EEG lab from May 2000 through January 2005, 109 distinct seizures in 77 infants were reviewed. Eight events in eight patients were excluded because of video files insufficiently reliable to determine the clinical charac...
متن کاملDetection of generalized tonic–clonic seizures using surface electromyographic monitoring
OBJECTIVE A prospective multicenter phase III trial was undertaken to evaluate the performance and tolerability in the epilepsy monitoring unit (EMU) of an investigational wearable surface electromyographic (sEMG) monitoring system for the detection of generalized tonic-clonic seizures (GTCSs). METHODS One hundred ninety-nine patients with a history of GTCSs who were admitted to the EMU in 11...
متن کاملPerampanel for tonic-clonic seizures in idiopathic generalized epilepsy
OBJECTIVE To assess efficacy and safety of adjunctive perampanel in patients with drug-resistant, primary generalized tonic-clonic (PGTC) seizures in idiopathic generalized epilepsy (IGE). METHODS In this multicenter, double-blind study (ClinicalTrials.gov identifier: NCT01393743; funded by Eisai Inc.), patients 12 years or older with PGTC seizures and IGE were randomized to placebo or peramp...
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ژورنال
عنوان ژورنال: Brain
سال: 2003
ISSN: 1460-2156
DOI: 10.1093/brain/awg053