title: 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.
abstract: 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.
authors.affiliation: Pediatric Neurology Unit and Rare Disease Laboratory, Department of Paediatrics Salus Pueri, University of Padua, Padova, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Sartori
authors.forename: Roberta
authors.initials: R
authors.lastname: Polli
authors.forename: Elisa
authors.initials: E
authors.lastname: Bettella
authors.forename: Sara
authors.initials: S
authors.lastname: Rossato
authors.forename: Wainer
authors.initials: W
authors.lastname: Andreoli
authors.forename: Marilena
authors.initials: M
authors.lastname: Vecchi
authors.forename: Lucio
authors.initials: L
authors.lastname: Giordano
authors.forename: Patrizia
authors.initials: P
authors.lastname: Accorsi
authors.forename: Gabriella
authors.initials: G
authors.lastname: Di Rosa
authors.forename: Irene
authors.initials: I
authors.lastname: Toldo
authors.forename: Nelia
authors.initials: N
authors.lastname: Zamponi
authors.forename: Francesca
authors.initials: F
authors.lastname: Darra
authors.forename: Bernardo
authors.initials: B
authors.lastname: Dalla Bernardina
authors.forename: Giorgio
authors.initials: G
authors.lastname: Perilongo
authors.forename: Clementina
authors.initials: C
authors.lastname: Boniver
authors.forename: Alessandra
authors.initials: A
authors.lastname: Murgia
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D051360:Cyclin-Dependent Kinase 5 / Q000235:genetics*; D004252:DNA Mutational Analysis; D004569:Electroencephalography / Q000379:methods; D004827:Epilepsy / Q000150:complications / Q000235:genetics*; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D065768:Lennox Gastaut Syndrome; D008137:Longitudinal Studies; D008297:Male; D009154:Mutation / Q000235:genetics*; D012189:Retrospective Studies; D013036:Spasms, Infantile / Q000150:complications / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C469264:ARX protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors; D051360:Cyclin-Dependent Kinase 5; C495905:CDK5 protein, human