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SLC6A1 epileptic encephalopathy
Summary[edit]
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| Description |
English: SLC6A1 main features. (A) Schematic representation of the 2D structure of GAT1. (B) Diagram of GAT1 GABA transport function. (C) Paralogue conservation of the SLC6A1 gene family members. Higher values denote the degree of conservation. The pathogenic enriched regions are shown in red bars. (D) Cell type-specific expression of SLC6A1 and other frequently mutated epilepsy and neurodevelopmental disorder-associated genes (http://celltypes.brain-map.org/rnaseq/human). (E) Dynamic gene expression of SLC6A1 along with entire development and adulthood in the cerebellar cortex (CBC), mediodorsal nucleus of the thalamus (MD), striatum (STR), amygdala (AMY), hippocampus (HIP) and 11 areas of the neocortex (NCX) (http://hbatlas.org). |
| Date | |
| Source | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7677605/ |
| Author | Kimberly Goodspeed, Eduardo Pérez-Palma, Sumaiya Iqbal, Dominique Cooper,Annalisa Scimemi, Katrine M Johannesen, Arthur Stefanski, Scott Demarest, Katherine L Helbig, Jingqiong Kang, Frances C Shaffo, Brandon Prentice, Catherine A Brownstein, Byungchan Lim, Ingo Helbig, Emily De Los Reyes, Dianalee McKnight, Vincenzo Crunelli, Arthur J Campbell, Rikke S Møller, Amber Freed, and Dennis Lalf |
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| Date/Time | Thumbnail | Dimensions | User | Comment | |
|---|---|---|---|---|---|
| current | 23:41, 13 November 2023 | | 800 × 285 (37 KB) | Ozzie10aaaa (talk | contribs) | Uploaded a work by Kimberly Goodspeed, Eduardo Pérez-Palma, Sumaiya Iqbal, Dominique Cooper,Annalisa Scimemi, Katrine M Johannesen, Arthur Stefanski, Scott Demarest, Katherine L Helbig, Jingqiong Kang, Frances C Shaffo, Brandon Prentice, Catherine A Brownstein, Byungchan Lim, Ingo Helbig, Emily De Los Reyes, Dianalee McKnight, Vincenzo Crunelli, Arthur J Campbell, Rikke S Møller, Amber Freed, and Dennis Lalf from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7677605/ with UploadWizard |
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