| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Byumseok Koh, Young Eun Kim, Sung Bum Park, Seong Soon Kim, Jangjae Lee, Jeong Hyeon Jo, KyungJin Lee, Dong Hyuck Bae, Tae-Young Kim, Sung-Hee Cho, Myung Ae Bae, Dukjin Kang, Ki Young Ki. Unraveling the Molecular Landscape of SCN1A Gene Knockout in Cerebral Organoids: A Multiomics Approach Utilizing Proteomics, Lipidomics, and Transcriptomics. ACS omega. vol 9. issue 38. 2024-09-30. PMID:39346820. |
from comprehensive omics analyses, we found that scn1a ko organoids exhibit decreased growth, dysregulated neurotransmitter levels, and altered lipidomic, proteomic, and transcriptomic profiles compared to controls under matrix-free differentiation conditions. |
2024-09-30 |
2024-10-02 |
Not clear |
| Rekha Dwivedi, Meenakshi Kaushik, Manjari Tripathi, Rima Dada, Prabhakar Tiwar. Unraveling the genetic basis of epilepsy: Recent advances and implications for diagnosis and treatment. Brain research. 2024-07-20. PMID:39032529. |
key studies, such as the discovery of mutations in ion channels (e.g., scn1a and scn2a), neurotransmitter receptors (e.g., gabra1), and synaptic proteins (e.g., syngap1, kcnq2), have illuminated critical pathways underlying epilepsy susceptibility and pathogenesis. |
2024-07-20 |
2024-07-24 |
Not clear |
| Iori Ohmori, Mamoru Ouchida, Takafumi Miki, Nobuyoshi Mimaki, Shigeki Kiyonaka, Teiichi Nishiki, Kazuhito Tomizawa, Yasuo Mori, Hideki Matsu. A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy. Neurobiology of disease. vol 32. issue 3. 2009-01-28. PMID:18755274. |
the greater ca(v)2.1 currents caused by the r468q-cacnb4 mutation may increase the neurotransmitter release in the excitatory neurons under the condition of insufficient inhibitory neurons caused primarily by the scn1a mutation. |
2009-01-28 |
2023-08-12 |
Not clear |
| Daniel L Burges. Neonatal epilepsy syndromes and GEFS+: mechanistic considerations. Epilepsia. vol 46 Suppl 10. 2006-01-17. PMID:16359473. |
these genes encode voltage-gated na+ channel subunits (scn1a, scn2a, scn1b), voltage-gated k+ channel subunits (kcnq2, kcnq3), and a ligand-gated neurotransmitter receptor subunit (gabrg2). |
2006-01-17 |
2023-08-12 |
Not clear |