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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

2011; SAGE Publishing; Volume: 26; Issue: 6 Linguagem: Inglês

10.1177/0883073810387827

1708-8283

Stefano Sartori, Roberta Polli, Elisa Bettella, Sara Rossato, Wainer Andreoli, Marilena Vecchi, Lucio Giordano, Patrizia Accorsi, Gabriella Di Rosa, Irene Toldo, Nelia Zamponi, Francesca Darra, Bernardo Dalla Bernardina, Giorgio Perilongo, Clementina Boniver, Alessandra Murgia,

Genomics and Rare Diseases

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 epileptic encephalopathy of unknown etiology and onset within the first year of life, regardless of the presence of other clinical features or the definition of a precise epileptologic syndrome. A total of 8 different disease-causing mutations were detected in our population, confirming the pivotal role of these genes in the pathogenesis of the epileptic encephalopathies in infancy. Early key clinical and electroencephalographic phenotypical features identified in these patients can contribute to more precise and early diagnoses. This work provides a better phenotypic characterization and more stringent clinical indications for the molecular test.