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.

Grosso, S., Brogna, A., Bazzotti, S., Renieri, A., Morgese, G., & Balestri, P. (2007). Seizures and electroencephalographic findings in CDKL5 mutations: case report and review. BRAIN & DEVELOPMENT, 29(4), 239-242 [10.1016/j.braindev.2006.09.001].

Seizures and electroencephalographic findings in CDKL5 mutations: case report and review

GROSSO, S.;BROGNA, A.;RENIERI, A.;MORGESE, G.;BALESTRI, P.
2007

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.
Grosso, S., Brogna, A., Bazzotti, S., Renieri, A., Morgese, G., & Balestri, P. (2007). Seizures and electroencephalographic findings in CDKL5 mutations: case report and review. BRAIN & DEVELOPMENT, 29(4), 239-242 [10.1016/j.braindev.2006.09.001].
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11365/32531
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