Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Rebecca M Boumil"'
Autor:
Samuel K Asinof, Stacey J Sukoff Rizzo, Alexandra R Buckley, Barbara J Beyer, Verity A Letts, Wayne N Frankel, Rebecca M Boumil
Publikováno v:
PLoS Genetics, Vol 11, Iss 6, p e1005347 (2015)
The childhood epileptic encephalopathies (EE's) are seizure disorders that broadly impact development including cognitive, sensory and motor progress with severe consequences and comorbidities. Recently, mutations in DNM1 (dynamin 1) have been implic
Externí odkaz:
https://doaj.org/article/8e87ec15155c4e709e84d4dd11560b75
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
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f9fa434b72d93cbc83fcb86796f5172
http://www.sciencedirect.com/science/article/pii/S0969996116301541
http://www.sciencedirect.com/science/article/pii/S0969996116301541
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f9e5aaf5957d588b30189f544aeed25
https://doi.org/10.1093/hmg/ddn064
https://doi.org/10.1093/hmg/ddn064
Autor:
Samuel K. Asinof, Rebecca M. Boumil
Publikováno v:
Molecular & Cellular Epilepsy.
The epileptic encephalopathies (EE) are a family of severe brain disorders manifesting early in life and characterized by spasms and/or intractable seizures. The relentless seizure activity impacts both cognitive and behavioral development in the pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8be676c5e299fa7dd64fa545d6d2bdcf
https://doi.org/10.14800/mce.1028
https://doi.org/10.14800/mce.1028
Autor:
Steven Petrou, Brian J. Krueger, Ryan S. Dhindsa, Erin L. Heinzen, Shelton S. Bradrick, David Goldstein, Slavé Petrovski, Marvin Johnson, Xiaodi Yao, Wayne N. Frankel, Rebecca M. Boumil
Publikováno v:
Neurology: Genetics
Objective: To elucidate the functional consequences of epileptic encephalopathy–causing de novo mutations in DNM1 (A177P, K206N, G359A), which encodes a large mechanochemical GTPase essential for neuronal synaptic vesicle endocytosis. Methods: HeLa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3879de05c92635ad1cd98414e0cfb8fd
https://pubmed.ncbi.nlm.nih.gov/27066543
https://pubmed.ncbi.nlm.nih.gov/27066543
Autor:
Jeannie T. Lee, Rebecca M. Boumil
Publikováno v:
Human molecular genetics. 10(20)
In 1961, Mary Lyon first put forth the hypothesis that one X chromosome is inactivated in each cell of the female mammal. As we enter the new millennium and complete 40 years of study, the field of X-inactivation is rich with ideas and many contrasti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::218ecee9780a1c8279d48780c20743a1
https://pubmed.ncbi.nlm.nih.gov/11673405
https://pubmed.ncbi.nlm.nih.gov/11673405
A Missense Mutation in a Highly Conserved Alternate Exon of Dynamin-1 Causes Epilepsy in Fitful Mice
Autor:
Christine Lenz, Rebecca M. Boumil, Connie L. Mahaffey, Tobias Moser, Verity A. Letts, Monica C. Roberts, Wayne N. Frankel, Zhong-wei Zhang
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 6, Iss 8 (2010)
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 seizure
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b94ba7815297c5e6193ed72f0de98d91
https://doi.org/10.1371/journal.pgen.1001046
https://doi.org/10.1371/journal.pgen.1001046