bumetanide has been researched along with Angelman Syndrome in 1 studies
Angelman Syndrome: A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence happy); jerky puppetlike movements (hence puppet); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Angelman syndrome is a neurodevelopmental disorder caused by loss of function of the maternally expressed UBE3A gene." | 1.91 | Imbalanced expression of cation-chloride cotransporters as a potential therapeutic target in an Angelman syndrome mouse model. ( Egawa, K; Fukuda, A; Nishio, S; Sato, D; Shiraishi, H; Takahashi, Y; Watanabe, M, 2023) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 1 (100.00) | 2.80 |
| Authors | Studies |
|---|---|
| Egawa, K | 1 |
| Watanabe, M | 1 |
| Shiraishi, H | 1 |
| Sato, D | 1 |
| Takahashi, Y | 1 |
| Nishio, S | 1 |
| Fukuda, A | 1 |
1 other study available for bumetanide and Angelman Syndrome
| Article | Year |
|---|---|
Imbalanced expression of cation-chloride cotransporters as a potential therapeutic target in an Angelman syndrome mouse model.
Topics: Angelman Syndrome; Animals; Bumetanide; Chlorides; Epilepsy; Mice; Receptors, GABA-A; Sodium-Potassi | 2023 |