Article
Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life.
Journal of child neurology - 1 Jun 2011
Sartori Stefano, Polli Roberta, Bettella Elisa, Rossato Sara, Andreoli Wainer, Vecchi Marilena, Giordano Lucio, Accorsi Patrizia, Di Rosa Gabriella, Toldo Irene, Zamponi Nelia, Darra Francesca, Dalla Bernardina Bernardo, Perilongo Giorgio, Boniver Clementina, Murgia Alessandra
Abstract excerpt
Two genes causally involved in refractory epilepsy with mental retardation, cyclin-dependent kinase-like 5 and aristaless-related homeobox, could account for at least some forms of early onset epileptic encephalopathy that still lack etiological explanation. With the aim of investigating the specific pathogenic involvement of the 2 genes, we have conducted a clinical and molecular study in 80 patients with...
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