Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Research Project (R01)
Project #
5R01NS033300-02
Application #
2272023
Study Section
Neurological Sciences Subcommittee 1 (NLS)
Project Start
1995-05-01
Project End
1999-04-30
Budget Start
1996-05-01
Budget End
1997-04-30
Support Year
2
Fiscal Year
1996
Total Cost
Indirect Cost

  Institution

Name
University of Michigan Ann Arbor
Department
Neurology
Type
Schools of Medicine
DUNS #
791277940
City
Ann Arbor
State
MI
Country
United States
Zip Code
48109

  Publications

Lagrange, Andre H; Hu, NingNing; Macdonald, Robert L (2018) GABA beyond the synapse: defining the subtype-specific pharmacodynamics of non-synaptic GABAA receptors. J Physiol 596:4475-4495
Wang, Chen-Hung; Hernandez, Ciria C; Wu, Junyi et al. (2018) A Missense Mutation A384P Associated with Human Hyperekplexia Reveals a Desensitization Site of Glycine Receptors. J Neurosci 38:2818-2831
Hernandez, Ciria C; Kong, Weijing; Hu, Ningning et al. (2017) Altered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome. eNeuro 4:
Ishii, Atsushi; Kang, Jing-Qiong; Schornak, Cara C et al. (2017) A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy. J Med Genet 54:202-211
Shen, Dingding; Hernandez, Ciria C; Shen, Wangzhen et al. (2017) De novo GABRG2 mutations associated with epileptic encephalopathies. Brain 140:49-67
Hernandez, Ciria C; Klassen, Tara L; Jackson, Laurel G et al. (2016) Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population. PLoS One 11:e0162883
Botzolakis, Emmanuel J; Gurba, Katharine N; Lagrange, Andre H et al. (2016) Comparison of ?-Aminobutyric Acid, Type A (GABAA), Receptor ??? and ??? Expression Using Flow Cytometry and Electrophysiology: EVIDENCE FOR ALTERNATIVE SUBUNIT STOICHIOMETRIES AND ARRANGEMENTS. J Biol Chem 291:20440-61
Janve, Vaishali S; Hernandez, Ciria C; Verdier, Kelienne M et al. (2016) Epileptic encephalopathy de novo GABRB mutations impair ?-aminobutyric acid type A receptor function. Ann Neurol 79:806-825
Kang, Jing-Qiong; Macdonald, Robert L (2016) Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome. JAMA Neurol 73:1009-16
Kang, Jing-Qiong; Shen, Wangzhen; Zhou, Chengwen et al. (2015) The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration. Nat Neurosci 18:988-96

Showing the most recent 10 out of 72 publications