Ultimately, many questions remain unanswered regarding the pathogenesis of absenceepilepsy.
2
Focal spikes are often found in children with focal epilepsy but are not common in absenceepilepsy.
3
Five members exhibit a combination of absenceepilepsy (with 3 Hz spike-wave) and cerebellar ataxia.
4
We now report a family in which absenceepilepsy segregates in an autosomal dominant fashion through three generations.
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Background: Childhood absenceepilepsy is a common generalized epilepsy syndrome characterized by childhood onset of frequent sporadic absence seizures.
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We hypothesize that a subtle reduction in cortical inhibition underlies childhood absenceepilepsy seen in humans harboring the R43Q mutation.
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The mutant models offer an important opportunity to elucidate the molecular, developmental, and physiological mechanisms underlying one subtype of absenceepilepsy.
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Conclusions: This case demonstrates that focal spikes associated with childhood absenceepilepsy do not require specific treatment in the absence of focal seizures.
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Discussion: Using a unique sample of discordant MZ twins, our study identified genes with altered expression, which suggests novel mechanisms in idiopathic absenceepilepsy.
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Absenceepilepsy is a common disorder that arises in childhood and can be refractory to medical treatment.
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Nine family members were affected mainly by absenceepilepsies with a variable age at onset, from early childhood to adulthood.
12
Absenceepilepsy with 3 Hz spike-wave EEG is one of the most common human epilepsies, and is associated with significant morbidity.
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Background: Absenceepilepsy is characterized clinically by the impairment of consciousness and 3 Hz generalized spike-wave discharges (GSWDs) on EEG.