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

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 specifi...

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Bibliographic Details
Published in:Journal of child neurology 2011-06, Vol.26 (6), p.683-691
Main Authors: 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
Format: Article
Language:English
Subjects:
Adolescent
Child
Child, Preschool
Cyclin-Dependent Kinase 5 - genetics
DNA Mutational Analysis
Electroencephalography - methods
Epilepsy - complications
Epilepsy - genetics
Female
Homeodomain Proteins - genetics
Humans
Infant
Intellectual Disability - complications
Intellectual Disability - genetics
Lennox Gastaut Syndrome
Longitudinal Studies
Male
Mutation - genetics
Retrospective Studies
Spasms, Infantile - complications
Spasms, Infantile - genetics
Transcription Factors - genetics
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Summary: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.
ISSN:0883-0738
1708-8283
DOI:10.1177/0883073810387827