Aicardi Syndrome Genetics
New Aicardi syndrome genetics data have been reported by C. Nemos and co-authors
Published in Women's Health Law Weekly, October 25th, 2009
Research findings, 'Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature,' are discussed in a new report. "The CDKL5 gene has been implicated in the molecular etiology of early-onset intractable seizures with infantile spasms (IS), severe hypotonia and atypical Rett syndrome (RTT) features. So far, 48 deleterious alleles have been reported in the literature," researchers in France report.
"We screened the CDKL5 gene in a cohort of 177 patients with early-onset seizures, including 30 men and 10 girls with Aicardi syndrome. The screening was negative for all men as well as for women...
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