Extended spectrum of idiopathic generalized epilepsies associated withCACNA1Hfunctional variants
نویسندگان
چکیده
منابع مشابه
Epidemiology of idiopathic generalized epilepsies.
Idiopathic generalized epilepsies (IGEs) are a relatively new category of disorders defined by strict clinical and electroencephalogram (EEG) features proposed by the International League Against Epilepsy (ILAE) classification of epileptic syndromes. IGEs are usually easy to diagnose when clinical and EEG data are collected, but epilepsy is not synonymous with epileptic syndrome. So far, IGEs a...
متن کاملCopy number variants--an unexpected risk factor for the idiopathic generalized epilepsies.
Idiopathic generalized epilepsies account for 30% of all epilepsies and are the most common group of inherited seizures. They follow complex inheritance patterns involving multiple genes and environmental factors. The idiopathic generalized epilepsies are the most challenging and perhaps the most important area of epilepsy in which further genetic analysis is required; and understanding genetic...
متن کاملEEG-fMRI of idiopathic and secondarily generalized epilepsies.
We used simultaneous EEG and functional MRI (EEG-fMRI) to study generalized spike wave activity (GSW) in idiopathic and secondary generalized epilepsy (SGE). Recent studies have demonstrated thalamic and cortical fMRI signal changes in association with GSW in idiopathic generalized epilepsy (IGE). We report on a large cohort of patients that included both IGE and SGE, and give a functional inte...
متن کاملThe profusion of genotypes and phenotypes in "idiopathic" generalized epilepsies.
The myriad genetic associations with idiopathic (primary) generalized epilepsies (IGE) are challenging to both researchers and caregivers. There are numerous mutations, among them voltagegated sodium, potassium, and calcium channels and ligand-gated GABA receptors. A variety of mutations may produce similar phenotypes, while, equally troublesome, single mutations may produce a range of phenotyp...
متن کاملFunctional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies.
The ClC-2 Cl- channel has been postulated to play a role in the inhibitory GABA response in neurons or to participate in astrocyte-dependent extracellular electrolyte homeostasis. Three different mutations in the CLCN2 gene, encoding the voltage-dependent homodimeric ClC-2 channel, have been associated with idiopathic generalized epilepsy (IGE). We study their function in vitro by patch clamp a...
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ژورنال
عنوان ژورنال: Annals of Neurology
سال: 2007
ISSN: 0364-5134,1531-8249
DOI: 10.1002/ana.21169