SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits.
SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits.
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SYNGAP1 杂合性通过减少体感皮层回路内与触摸相关的活动来破坏感觉处理。
DOI：
10.1038/s41593-018-0268-0
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发表时间：
2018-12
影响因子：
25
通讯作者：
Rumbaugh G
中科院分区：
文献类型：
--
作者：
Michaelson SD;Ozkan ED;Aceti M;Maity S;Llamosas N;Weldon M;Mizrachi E;Vaissiere T;Gaffield MA;Christie JM;Holder JL Jr;Miller CA;Rumbaugh G
In addition to cognitive impairments, neurodevelopmental disorders (NDDs) often result in sensory processing deficits. However, the biological mechanisms that underlie impaired sensory processing associated with NDDs are generally understudied and poorly understood. We found that SYNGAP1 haploinsufficiency in humans, which causes a sporadic neurodevelopmental disorder defined by cognitive impairment, autistic features, and epilepsy, also leads to deficits in tactile-related sensory processing. In vivo neurophysiological analysis in Syngap1 mouse models revealed that upper-lamina neurons in somatosensory cortex (SSC) weakly encode information related to touch. This was caused by reduced synaptic connectivity and impaired intrinsic excitability within upper-lamina SSC neurons. These results were unexpected given that Syngap1 heterozygosity is known to cause circuit hyperexcitability in brain areas more directly linked to cognitive functions. Thus, Syngap1 heterozygosity causes a range of circuit-specific pathologies, including reduced activity within cortical neurons required for touch processing, which may contribute to sensory phenotypes observed in patients.
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影响因子：
25
作者：
Goncalves, J. Tiago;Anstey, James E.;Golshani, Peyman;Portera-Cailliau, Carlos
通讯作者：
Portera-Cailliau, Carlos
影响因子：
3
作者：
ChenBee, CH;Kwon, MC;Frostig, RD
通讯作者：
Frostig, RD
影响因子：
5.3
作者：
Clement, James P.;Ozkan, Emin D.;Rumbaugh, Gavin
通讯作者：
Rumbaugh, Gavin
影响因子：
30.8
作者：
Carvill, Gemma L.;Heavin, Sinead B.;Yendle, Simone C.;McMahon, Jacinta M.;O'Roak, Brian J.;Cook, Joseph;Khan, Adiba;Dorschner, Michael O.;Weaver, Molly;Calvert, Sophie;Malone, Stephen;Wallace, Geoffrey;Stanley, Thorsten;Bye, Ann M. E.;Bleasel, Andrew;Howell, Katherine B.;Kivity, Sara;Mackay, Mark T.;Rodriguez-Casero, Victoria;Webster, Richard;Korczyn, Amos;Afawi, Zaid;Zelnick, Nathanel;Lerman-Sagie, Tally;Lev, Dorit;Moller, Rikke S.;Gill, Deepak;Andrade, Danielle M.;Freeman, Jeremy L.;Sadleir, Lynette G.;Shendure, Jay;Berkovic, Samuel F.;Scheffer, Ingrid E.;Mefford, Heather C.
通讯作者：
Mefford, Heather C.
影响因子：
3
作者：
Harrison, Thomas C.;Sigler, Albrecht;Murphy, Timothy H.
通讯作者：
Murphy, Timothy H.