Biomedical Scinece and Research Journals | Pore-Forming M2 Domains of CHRNA4 and CHRNB2 Mutations In Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) Phenotype

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) is an uncommon form of epilepsy which causes partial seizures that usually occur at night and almost exclusively during sleep which are characterized by brief tonic or hyperkinetic motor activity without alteration in consciousness. There is some specific cholinergic receptor, nicotinic genes which their mutations can cause ADNFLE like CHRNA2, CHRNA4 and CHRNB2. In this study we have reviewed the effects of Pore-forming M2 domains of CHRNA4 and CHRNB2 genes in occurrence of ADNFLE.

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) is an uncommon form of epilepsy which its seizure characteristics tend to occur in clusters - brief motor episodes with hyperkinetic and dystonic features or tonic manifestations. ADNFLE as a focal epilepsy syndrome is described with a single gene inheritance pattern. Its onset ranges from infancy to adulthood although late childhood – about seven to twelve years of age – is the main onset time. Usually the first seizure occurs before the age of twenty and the men and women can be equally affected. 
 
To view fulltext of article:https://biomedgrid.com/fulltext/volume1/pore-forming-m2-domains-of-chrna4-and-chrnb2-mutations-in-autosomal-dominant-nocturnal.000547.php

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