Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Connie L Mahaffey"'
Publikováno v:
PLoS Genetics, Vol 10, Iss 7, p e1004454 (2014)
Absence epilepsy (AE) is a common type of genetic generalized epilepsy (GGE), particularly in children. AE and GGE are complex genetic diseases with few causal variants identified to date. Gria4 deficient mice provide a model of AE, one for which the
Externí odkaz:
https://doaj.org/article/c13272534bcf46fead51e742675737d8
Autor:
Jacy L Wagnon, Michael Briese, Wenzhi Sun, Connie L Mahaffey, Tomaž Curk, Gregor Rot, Jernej Ule, Wayne N Frankel
Publikováno v:
PLoS Genetics, Vol 8, Iss 11, p e1003067 (2012)
RNA-binding proteins have emerged as causal agents of complex neurological diseases. Mice deficient for neuronal RNA-binding protein CELF4 have a complex neurological disorder with epilepsy as a prominent feature. Human CELF4 has recently been associ
Externí odkaz:
https://doaj.org/article/e9c1e6967d9345a9b1533924a18d8d9d
Autor:
Rebecca M Boumil, Verity A Letts, Monica C Roberts, Christine Lenz, Connie L Mahaffey, Zhong-Wei Zhang, Tobias Moser, Wayne N Frankel
Publikováno v:
PLoS Genetics, Vol 6, Iss 8 (2010)
Dynamin-1 (Dnm1) encodes a large multimeric GTPase necessary for activity-dependent membrane recycling in neurons, including synaptic vesicle endocytosis. Mice heterozygous for a novel spontaneous Dnm1 mutation--fitful--experience recurrent seizures,
Externí odkaz:
https://doaj.org/article/f8148b7982534ebeb974caae44237bc6
Autor:
Yan Yang, Connie L Mahaffey, Nathalie Bérubé, Terry P Maddatu, Gregory A Cox, Wayne N Frankel
Publikováno v:
PLoS Genetics, Vol 3, Iss 7, p e124 (2007)
Idiopathic epilepsy is a common human disorder with a strong genetic component, usually exhibiting complex inheritance. We describe a new mouse mutation in C57BL/6J mice, called frequent-flyer (Ff), in which disruption of the gene encoding RNA-bindin
Externí odkaz:
https://doaj.org/article/233cb02082834bcf905e348369b35467
Publikováno v:
Neurobiology of Disease, Vol 95, Iss, Pp 1-11 (2016)
Dynamin 1 is a large neuron-specific GTPase involved in the endocytosis and recycling of pre-synaptic membranes and synaptic vesicles. Mutations in the gene encoding dynamin 1 (DNM1) underlie two epileptic encephalopathy syndromes, Lennox-Gastaut Syn
Publikováno v:
The Journal of Physiology. 591:241-255
Mice deficient for CELF4, a neuronal RNA-binding protein, have a complex seizure disorder that includes both convulsive and non-convulsive seizures, and is dependent upon Celf4 gene dosage and mouse strain background. It was previously shown that Cel
Autor:
Steve C. Danzer, Satoko Tokuda, Bobby R. Monks, Morris J. Birnbaum, Wayne N. Frankel, Connie L. Mahaffey, Christian R. Faulkner
Publikováno v:
Human Molecular Genetics. 20:988-999
In a phenotype-driven mutagenesis screen, a novel, dominant mouse mutation, Nmf350, caused low seizure threshold, sporadic tonic-clonic seizures, brain enlargement and ectopic neurons in the dentate hilus and molecular layer of the hippocampus. Genet
Publikováno v:
Genes, Brain and Behavior. 8:568-576
In a chemical mutagenesis screen we identified Szt2 (seizure threshold 2) as a gene that confers low seizure threshold to mice and may also enhance epileptogenesis. The semidominant phenotype was mapped to Chromosome 4 and narrowed further to a criti
Autor:
John R. Huguenard, Charlotte Deleuze, Rebecca M. Boumil, Verity A. Letts, Connie L. Mahaffey, Barbara Beyer, Timothy A Lew, Wayne N. Frankel
Publikováno v:
Human Molecular Genetics
Absence epilepsy, characterized by spike–wave discharges (SWD) in the electroencephalogram, arises from aberrations within the circuitry of the cerebral cortex and thalamus that regulates awareness. The inbred mouse strain C3H/HeJ is prone to absen
Publikováno v:
Proceedings of the National Academy of Sciences. 102:2123-2128
The voltage-dependent calcium channel γ4 subunit protein, CACNG4, is closely related to the γ2 subunit, CACNG2. Both are expressed primarily in the brain and share 53% amino acid identity. The Cacng2 gene is disrupted in the stargazer mouse, with i