title: Seizures and electroencephalographic findings in CDKL5 mutations: case report and review.
abstract: Mutations in the X-linked gene cyclin-dependent kinase-like 5 (CDKL5) have been detected in patients presenting with seizures in the first few months of life and Rett syndrome features. Twenty-seven cases have been detected to date. Generalized intractable seizures, as infantile spasms, and generalized tonic-clonic seizures and myoclonic seizures characterize the clinical picture of CDKL5 mutations. Here we report on a patient who presented with sleep-related hyperkinetic seizures. Our observation and review of the literature suggest that a broader polymorphic electroclinical pattern with both generalized and focal seizures may occur in patients with CDKL5 mutations. A screen for CDKL5 mutations is useful in patients, mainly females, with a history of early onset intractable seizures and becomes mandatory when idiopathic infantile spasms and/or atypical Rett syndrome features are also present.
authors.affiliation: Department of Pediatrics, Pediatric Neurology Section, University of Siena, "Santa Maria alle Scotte" Hospital, 53100 Siena, Italy. grosso@unisi.it
authors.forename: S
authors.initials: S
authors.lastname: Grosso
authors.forename: A
authors.initials: A
authors.lastname: Brogna
authors.forename: S
authors.initials: S
authors.lastname: Bazzotti
authors.forename: A
authors.initials: A
authors.lastname: Renieri
authors.forename: G
authors.initials: G
authors.lastname: Morgese
authors.forename: P
authors.initials: P
authors.lastname: Balestri
mesh_terms: D002648:Child; D004569:Electroencephalography; D005260:Female; D006801:Humans; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012640:Seizures / Q000235:genetics*
chemical_list: D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human