Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The nicotinic acetylcholine receptors are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. Mutations in neuronal nicotinic acetylcholine receptor beta 2 subunit have been associated with autosomal dominant nocturnal frontal lobe epilepsies. A major challenge is to establish whether the monogenic epilepsy gene also contributes to the common epilepsies. Because febrile seizures represent the majority of childhood seizures, and a genetic predisposition, we investigated the possibility that the nicotinic acetylcholine receptor beta 2 subunit might be involved in the etiology of febrile seizures. Children were divided into two groups: those with febrile seizures (group 1; n = 104) and control patients (group 2; n = 83). Polymerase chain reaction was used to identify the G/C and T/C polymorphisms of the nicotinic acetylcholine receptor beta 2 subunit gene, which is mapped on chromosome 1. Genotypes and allelic frequencies for nicotinic acetylcholine receptor beta 2 subunit gene polymorphisms in both groups were compared. The results indicated that genotypes and allelic frequencies in both groups were not significantly different. These data suggest that nicotinic acetylcholine receptor beta 2 subunit polymorphisms are not a useful marker for prediction of the susceptibility to febrile seizures.
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PMID:Association of the nicotinic receptor beta 2 subunit and febrile seizures. 1503