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Updated: Aug 14, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
[Concerning the interpretation of the contingent negative variation in psychiatry (author's transl)]
Abstract:
After a review of the literature stressing the biological factors underlying CNV genesis, the author sets up a tentative biological model of CNV, based on the neurophysiological and neurochemical findings of Skinner and Yingling (1977) and Marczynski (1978). In terms of balance between excitatory and inhibitory processes this model encompasses different CNV abnormalities in amplitude or duration frequently observed in mental pathology. The interest of such a model lies in the physiopathologic and therapeutic hypotheses it may lead to. In this respect, CNVs of prolonged duration, which would reflect a catecholaminergic hyperactivity, could constitute an indication for treatment by neuroleptics and/or benzodiazepines. CNVs with a weak amplitude would rather invite one to prescribe antidepressant drugs.
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