1 |
Culture of lymphoblastoid line from blood sample |
- |
- |
- |
- |
102 [1] 102 💬 |
2 |
Depakine |
- |
- |
- |
- |
102 [1] 102 💬 |
3 |
Other: functional involvement of identified epigenetic alterations |
- |
- |
- |
- |
102 [1] 102 💬 |
4 |
Other: generation of induced pluripotent stem cells (ipsc) from fibroblasts obtained by skin biopsy |
- |
- |
- |
- |
102 [1] 102 💬 |
5 |
Other: histone acetylation profiles of cells of srt patients with crebbp mutations |
- |
- |
- |
- |
102 [1] 102 💬 |
6 |
Procedure: skin biopsy for the primary fibroblast culture and a 15 ml blood sample (3 unnamed samples of 5ml) in each of the 4 srt patients included. |
- |
- |
- |
- |
102 [1] 102 💬 |
7 |
Sodium valproate |
Valproic acid |
[1] D00399 D00399 💬 |
ABAT [7] ABAT, ALDH5A1, CACNA1G, CACNA1H, CACNA1I, GAD1, GAD2 💬 |
Alanine, aspartate and glutamate metabolism [17] Alanine, aspartate and glutamate metabolism, Aldosterone synthesis and secretion, Butanoate metabolism, Calcium signaling pathway, Circadian entrainment, Cortisol synthesis and secretion, Cushing syndrome, GABAergic synapse, GnRH secretion, MAPK signaling pathway, Metabolic pathways, Propanoate metabolism, Taurine and hypotaurine metabolism, Type I diabetes mellitus, Type II diabetes mellitus, Valine, leucine and isoleucine degradation, beta-Alanine metabolism |
002 [4] 2 , 90, 102, 256 💬 |
8 |
Valproate |
Valproic acid |
[1] D00399 D00399 💬 |
ABAT [7] ABAT, ALDH5A1, CACNA1G, CACNA1H, CACNA1I, GAD1, GAD2 💬 |
Alanine, aspartate and glutamate metabolism [17] Alanine, aspartate and glutamate metabolism, Aldosterone synthesis and secretion, Butanoate metabolism, Calcium signaling pathway, Circadian entrainment, Cortisol synthesis and secretion, Cushing syndrome, GABAergic synapse, GnRH secretion, MAPK signaling pathway, Metabolic pathways, Propanoate metabolism, Taurine and hypotaurine metabolism, Type I diabetes mellitus, Type II diabetes mellitus, Valine, leucine and isoleucine degradation, beta-Alanine metabolism |
002 [6] 2 , 3 , 90, 102, 233, 256 💬 |