Molecular Pathology of Genetic Epilepsies Associated with GABAA Receptor Subunit Mutations
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چکیده
منابع مشابه
Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies.
With a worldwide incidence as high as 6.7% of children, febrile seizures are one of the most common reasons for seeking pediatric care, but the mechanisms underlying generation of febrile seizures are poorly understood. Febrile seizures have been suspected to have a genetic basis, and recently, mutations in GABAA receptor and sodium channel genes have been identified that are associated with fe...
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A major challenge in understanding complex idiopathic generalized epilepsies has been the characterization of their underlying molecular genetic basis. Here, we report that genetic variation within the GABRD gene, which encodes the GABAA receptor delta subunit, affects GABA current amplitude consistent with a model of polygenic susceptibility to epilepsy in humans. We have found a GABRD Glu177A...
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ژورنال
عنوان ژورنال: Epilepsy Currents
سال: 2009
ISSN: 1535-7597,1535-7511
DOI: 10.1111/j.1535-7511.2008.01278.x