Matches in SemOpenAlex for { <https://semopenalex.org/work/W2010065714> ?p ?o ?g. }
- W2010065714 abstract "Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a focal epilepsy with attacks typically arising in the frontal lobe during non-rapid eye movement (NREM) sleep. It is characterized by clusters of complex and stereotyped hypermotor seizures, frequently accompanied by sudden arousals. Cognitive and psychiatric symptoms may be also observed. Approximately 12% of the ADNFLE families carry mutations on genes coding for subunits of the heteromeric neuronal nicotinic receptors (nAChRs). This is consistent with the widespread expression of these receptors, particularly the α4β2(*) subtype, in the neocortex and thalamus. However, understanding how mutant nAChRs lead to partial frontal epilepsy is far from being straightforward because of the complexity of the cholinergic regulation in both developing and mature brains. The relation with the sleep-waking cycle must be also explained. We discuss some possible pathogenetic mechanisms in the light of recent advances about the nAChR role in prefrontal regions as well as the studies carried out in murine models of ADNFLE. Functional evidence points to alterations in prefrontal GABA release, and the synaptic unbalance probably arises during the cortical circuit maturation. Although most of the available functional evidence concerns mutations on nAChR subunit genes, other genes have been recently implicated in the disease, such as KCNT1 (coding for a Na(+)-dependent K(+) channel), DEPD5 (Disheveled, Egl-10 and Pleckstrin Domain-containing protein 5), and CRH (Corticotropin-Releasing Hormone). Overall, the uncertainties about both the etiology and the pathogenesis of ADNFLE point to the current gaps in our knowledge the regulation of neuronal networks in the cerebral cortex." @default.
- W2010065714 created "2016-06-24" @default.
- W2010065714 creator A5008203817 @default.
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- W2010065714 creator A5031169399 @default.
- W2010065714 creator A5045629243 @default.
- W2010065714 creator A5081077834 @default.
- W2010065714 date "2015-02-11" @default.
- W2010065714 modified "2023-10-16" @default.
- W2010065714 title "The role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy" @default.
- W2010065714 cites W1486265241 @default.
- W2010065714 cites W1489513029 @default.
- W2010065714 cites W1499292304 @default.
- W2010065714 cites W1501039079 @default.
- W2010065714 cites W1519261920 @default.
- W2010065714 cites W1571140265 @default.
- W2010065714 cites W1588629441 @default.
- W2010065714 cites W1592246578 @default.
- W2010065714 cites W1684892656 @default.
- W2010065714 cites W1840472544 @default.
- W2010065714 cites W1867921149 @default.
- W2010065714 cites W1879798186 @default.
- W2010065714 cites W1939947624 @default.
- W2010065714 cites W1964320147 @default.
- W2010065714 cites W1965852055 @default.
- W2010065714 cites W1966011852 @default.
- W2010065714 cites W1967131649 @default.
- W2010065714 cites W1969810337 @default.
- W2010065714 cites W1970719523 @default.
- W2010065714 cites W1970789949 @default.
- W2010065714 cites W1970818128 @default.
- W2010065714 cites W1970969030 @default.
- W2010065714 cites W1980643144 @default.
- W2010065714 cites W1981863353 @default.
- W2010065714 cites W1985571774 @default.
- W2010065714 cites W1987805203 @default.
- W2010065714 cites W1987964421 @default.
- W2010065714 cites W1989029077 @default.
- W2010065714 cites W1992424371 @default.
- W2010065714 cites W1994350928 @default.
- W2010065714 cites W1994912021 @default.
- W2010065714 cites W1995031373 @default.
- W2010065714 cites W1995658722 @default.
- W2010065714 cites W1995892920 @default.
- W2010065714 cites W1995897833 @default.
- W2010065714 cites W1996157865 @default.
- W2010065714 cites W2000584367 @default.
- W2010065714 cites W2001241739 @default.
- W2010065714 cites W2005491437 @default.
- W2010065714 cites W2009384374 @default.
- W2010065714 cites W2009833394 @default.
- W2010065714 cites W2010645840 @default.
- W2010065714 cites W2011580879 @default.
- W2010065714 cites W2012416101 @default.
- W2010065714 cites W2014616332 @default.
- W2010065714 cites W2017771631 @default.
- W2010065714 cites W2019159182 @default.
- W2010065714 cites W2021755555 @default.
- W2010065714 cites W2021837819 @default.
- W2010065714 cites W2022503151 @default.
- W2010065714 cites W2025603247 @default.
- W2010065714 cites W2027661077 @default.
- W2010065714 cites W2028311911 @default.
- W2010065714 cites W2033670595 @default.
- W2010065714 cites W2033814322 @default.
- W2010065714 cites W2035208729 @default.
- W2010065714 cites W2037174026 @default.
- W2010065714 cites W2037998605 @default.
- W2010065714 cites W2038328684 @default.
- W2010065714 cites W2041556105 @default.
- W2010065714 cites W2044184324 @default.
- W2010065714 cites W2045697035 @default.
- W2010065714 cites W2047250466 @default.
- W2010065714 cites W2047331648 @default.
- W2010065714 cites W2052792709 @default.
- W2010065714 cites W2052869591 @default.
- W2010065714 cites W2053989438 @default.
- W2010065714 cites W2054260662 @default.
- W2010065714 cites W2056210890 @default.
- W2010065714 cites W2057178098 @default.
- W2010065714 cites W2057787317 @default.
- W2010065714 cites W2058141568 @default.
- W2010065714 cites W2058985438 @default.
- W2010065714 cites W2059234084 @default.
- W2010065714 cites W2059858550 @default.
- W2010065714 cites W2062477559 @default.
- W2010065714 cites W2062624347 @default.
- W2010065714 cites W2062636034 @default.
- W2010065714 cites W2064307819 @default.
- W2010065714 cites W2065033700 @default.
- W2010065714 cites W2068857757 @default.
- W2010065714 cites W2069789486 @default.
- W2010065714 cites W2070115610 @default.
- W2010065714 cites W2070283278 @default.
- W2010065714 cites W2070469268 @default.
- W2010065714 cites W2074981454 @default.
- W2010065714 cites W2075337277 @default.
- W2010065714 cites W2075847995 @default.
- W2010065714 cites W2076446941 @default.
- W2010065714 cites W2077516679 @default.