Autism is a complex, largely genetic psychiatric disorder. In the majority of cases, the cause of autism is not known, but there is strong evidence for a genetic etiology. To identify candidate genes, the physical mapping of balanced chromosomal aberrations is a powerful strategy, since several genes have been characterized in numerous disorders. In this study, the authors analyzed a balanced reciprocal translocation arising de novo in a subject with autism and mental retardation.
Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation / Laumonnier, Frédéric; Roger, Sébastien; Guérin, Pascaline; Molinari, Florence; M'rad, Ridha; Cahard, Dominique; Belhadj, Ahlem; Halayem, Mohamed; Persico, Antonio M; Elia, Maurizio; Romano, Valentino; Holbert, Sébastien; Andres, Christian; Chaabouni, Habiba; Colleaux, Laurence; Constant, Jacques; Le Guennec, Jean-Yves; Briault, Sylvain. - In: THE AMERICAN JOURNAL OF PSYCHIATRY. - ISSN 0002-953X. - 163:9(2006), pp. 1622-1629. [10.1176/ajp.2006.163.9.1622]
Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation
Persico, Antonio M;
2006
Abstract
Autism is a complex, largely genetic psychiatric disorder. In the majority of cases, the cause of autism is not known, but there is strong evidence for a genetic etiology. To identify candidate genes, the physical mapping of balanced chromosomal aberrations is a powerful strategy, since several genes have been characterized in numerous disorders. In this study, the authors analyzed a balanced reciprocal translocation arising de novo in a subject with autism and mental retardation.
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