Altered cortical GABAA receptor composition, physiology, and endocytosis in a mouse model of a human genetic absence epilepsy syndrome

Chengwen Zhou; Zhiling Huang; Li Ding; M. Elizabeth Deel; Fazal M. Arain; Clark R. Murray; Ronak S. Patel; Christopher D. Flanagan; Martin J. Gallagher

doi:10.1074/jbc.M112.444372

Altered cortical GABA_A receptor composition, physiology, and endocytosis in a mouse model of a human genetic absence epilepsy syndrome

Chengwen Zhou
, Zhiling Huang
, Li Ding
, M. Elizabeth Deel
, Fazal M. Arain
, Clark R. Murray
, Ronak S. Patel
, Christopher D. Flanagan
, Martin J. Gallagher

Research output: Contribution to journal › Article › peer-review

45 Citations (Scopus)

Abstract

Background: Heterozygous GABR_A1 deletion causes absence epilepsy. Results: The deletion modestly decreased cortical GABA_A receptor number but also reduced the rate of receptor endocytosis and thus partially compensated for the deletion by increasing the expression of different receptor isoforms. Conclusion: Heterozygous GABR_A1 deletion caused novel alterations in cortical GABA_A receptor expression and physiology. Significance: These findings reveal mechanisms of cortical disinhibition in absence epilepsy.

Original language	English (US)
Pages (from-to)	21458-21472
Number of pages	15
Journal	Journal of Biological Chemistry
Volume	288
Issue number	29
DOIs	https://doi.org/10.1074/jbc.M112.444372
Publication status	Published - 19 Jul 2013
Externally published	Yes

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title = "Altered cortical GABAA receptor composition, physiology, and endocytosis in a mouse model of a human genetic absence epilepsy syndrome",

abstract = "Background: Heterozygous GABRA1 deletion causes absence epilepsy. Results: The deletion modestly decreased cortical GABAA receptor number but also reduced the rate of receptor endocytosis and thus partially compensated for the deletion by increasing the expression of different receptor isoforms. Conclusion: Heterozygous GABRA1 deletion caused novel alterations in cortical GABAA receptor expression and physiology. Significance: These findings reveal mechanisms of cortical disinhibition in absence epilepsy.",

author = "Chengwen Zhou and Zhiling Huang and Li Ding and Deel, \{M. Elizabeth\} and Arain, \{Fazal M.\} and Murray, \{Clark R.\} and Patel, \{Ronak S.\} and Flanagan, \{Christopher D.\} and Gallagher, \{Martin J.\}",

year = "2013",

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doi = "10.1074/jbc.M112.444372",

language = "English (US)",

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TY - JOUR

T1 - Altered cortical GABAA receptor composition, physiology, and endocytosis in a mouse model of a human genetic absence epilepsy syndrome

AU - Zhou, Chengwen

AU - Huang, Zhiling

AU - Ding, Li

AU - Deel, M. Elizabeth

AU - Arain, Fazal M.

AU - Murray, Clark R.

AU - Patel, Ronak S.

AU - Flanagan, Christopher D.

AU - Gallagher, Martin J.

PY - 2013/7/19

Y1 - 2013/7/19

N2 - Background: Heterozygous GABRA1 deletion causes absence epilepsy. Results: The deletion modestly decreased cortical GABAA receptor number but also reduced the rate of receptor endocytosis and thus partially compensated for the deletion by increasing the expression of different receptor isoforms. Conclusion: Heterozygous GABRA1 deletion caused novel alterations in cortical GABAA receptor expression and physiology. Significance: These findings reveal mechanisms of cortical disinhibition in absence epilepsy.

AB - Background: Heterozygous GABRA1 deletion causes absence epilepsy. Results: The deletion modestly decreased cortical GABAA receptor number but also reduced the rate of receptor endocytosis and thus partially compensated for the deletion by increasing the expression of different receptor isoforms. Conclusion: Heterozygous GABRA1 deletion caused novel alterations in cortical GABAA receptor expression and physiology. Significance: These findings reveal mechanisms of cortical disinhibition in absence epilepsy.

UR - https://www.scopus.com/pages/publications/84880548283

U2 - 10.1074/jbc.M112.444372

DO - 10.1074/jbc.M112.444372

M3 - Article

C2 - 23744069

AN - SCOPUS:84880548283

SN - 0021-9258

VL - 288

SP - 21458

EP - 21472

JO - Journal of Biological Chemistry

JF - Journal of Biological Chemistry

IS - 29

ER -

Altered cortical GABA_A receptor composition, physiology, and endocytosis in a mouse model of a human genetic absence epilepsy syndrome

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