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- W2741601871 abstract "Animal studies of several single-gene disorders demonstrate that reversing the molecular signaling deficits can result in substantial symptomatic improvements in function. Focusing on the ratio of excitation to inhibition as a potential pathophysiological hallmark, seven single-gene developmental CNS disorders are reviewed which are characterized by a striking dysregulation of neuronal inhibition. Deficits in inhibition and excessive inhibition are found. The examples of developmental disorders encompass Neurofibromatosis type 1, Fragile X syndrome, Rett syndrome, Dravet syndrome including autism-like behavior, NONO-mutation-induced intellectual disability, Succinic semialdehyde dehydrogenase deficiency and Congenital nystagmus due to FRMD7 mutations. The phenotype/genotype correlations observed in animal models point to potential treatment options and will continue to inspire clinical research. Three drugs are presently in clinical trials: acamprosate and ganoxolon for Fragile X syndrome and SGS-742 for SSADH deficiency. This article is part of the “Special Issue Dedicated to Norman G. Bowery”." @default.
- W2741601871 created "2017-08-08" @default.
- W2741601871 creator A5016509726 @default.
- W2741601871 creator A5019643013 @default.
- W2741601871 date "2018-07-01" @default.
- W2741601871 modified "2023-10-16" @default.
- W2741601871 title "Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment" @default.
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