also known as synaptic Ras-GAP 1 or SYNGAP1, is a protein that in humans is encoded by the SYNGAP1 gene. SYNGAP1 is a ras GTPase-activating protein that...
19 KB (2,243 words) - 05:13, 1 March 2024
SYNGAP1-related intellectual disability is a monogenetic developmental and epileptic encephalopathy that affects the central nervous system. Symptoms...
23 KB (1,899 words) - 13:50, 23 September 2024
syndrome with multiple lentigines (NSML), formerly called LEOPARD syndrome SYNGAP1-related intellectual disability Somatic mutations in the Ras/MAPK pathway...
5 KB (470 words) - 11:25, 24 August 2024
syndrome, branched-chain keto acid dehydrogenase kinase deficiency, and SYNGAP1-related intellectual disability. Learning disabilities are also highly...
255 KB (27,390 words) - 22:17, 14 October 2024
are responsible for some epileptic encephalopathies, including CHD2 and SYNGAP1 and DNM1, GABBR2, FASN and RYR3. Syndromes in which causes are not clearly...
168 KB (18,337 words) - 04:05, 6 October 2024
neurons . They act on ancestral molecular pathways that involve SRGAP2 and SYNGAP1, a major gene involved in neurodevelopmental disorders . GRCh38: Ensembl...
5 KB (601 words) - 18:01, 14 October 2024
of human cortical neurons requires species-specific balancing of SRGAP2-SYNGAP1 cross-inhibition". Neuron. doi:10.1016/j.neuron.2024.08.021. {{cite journal}}:...
71 KB (8,127 words) - 18:04, 14 October 2024
SOS2, SPATA13, SPNB4, SPTBN1, SPTBN2, SPTBN4, SPTBN5, STAP1, SWAP70, SYNGAP1, TBC1D2, TEC, TIAM1, TRIO, TRIOBP, TYL, URP1, URP2, VAV1, VAV2, VAV3, VEPH1...
14 KB (1,434 words) - 18:03, 6 October 2024
67:603-17. Clement JP, Ozkan ED, Aceti M, Miller CA and Rumbaugh G (2013) SYNGAP1 links the maturation rate of excitatory synapses to the duration of critical-period...
20 KB (2,351 words) - 01:09, 29 October 2021
Q8WXH0 16146 SYNE3 HGNC:19861 Q6ZMZ3 16147 SYNE4 HGNC:26703 Q8N205 16148 SYNGAP1 HGNC:11497 Q96PV0 16149 SYNGR1 HGNC:11498 O43759 16150 SYNGR2 HGNC:11499...
242 KB (17 words) - 18:43, 6 October 2024