Page last updated: 2024-10-17

chlorine and Angelman Syndrome

chlorine has been researched along with Angelman Syndrome in 2 studies

chloride : A halide anion formed when chlorine picks up an electron to form an an anion.

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)

Research Excerpts

ExcerptRelevanceReference
"The causes of epilepsies and epileptic seizures are multifactorial."2.46Mutations affecting GABAergic signaling in seizures and epilepsy. ( Galanopoulou, AS, 2010)
"Angelman syndrome is a neurodevelopmental disorder caused by loss of function of the maternally expressed UBE3A gene."1.91Imbalanced 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)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (50.00)24.3611
2020's1 (50.00)2.80

Authors

AuthorsStudies
Egawa, K1
Watanabe, M1
Shiraishi, H1
Sato, D1
Takahashi, Y1
Nishio, S1
Fukuda, A1
Galanopoulou, AS1

Reviews

1 review available for chlorine and Angelman Syndrome

ArticleYear
Mutations affecting GABAergic signaling in seizures and epilepsy.
    Pflugers Archiv : European journal of physiology, 2010, Volume: 460, Issue:2

    Topics: Angelman Syndrome; Animals; Channelopathies; Chloride Channels; Chlorides; CLC-2 Chloride Channels;

2010

Other Studies

1 other study available for chlorine and Angelman Syndrome

ArticleYear
Imbalanced expression of cation-chloride cotransporters as a potential therapeutic target in an Angelman syndrome mouse model.
    Scientific reports, 2023, 04-17, Volume: 13, Issue:1

    Topics: Angelman Syndrome; Animals; Bumetanide; Chlorides; Epilepsy; Mice; Receptors, GABA-A; Sodium-Potassi

2023