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CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

From the Oasi Institute for Research on Mental Retardation and Brain Aging (M.E., M. Falco, R.F., A.S., M.B., G.C., S.A.M., M.L.G., M. Fichera), Troina; and Clinic of Child and Adolescent Neuropsychiatry (M.C.), Second University of Naples, Italy.

Address correspondence and reprint requests to Dr. Maurizio Elia, Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Via Conte Ruggero 73, 94018 Troina (EN), Italy melia{at}oasi.en.it

Objective: To search for CDKL5 gene mutations in boys presenting with severe early-onset encephalopathy and intractable epilepsy, a clinical picture very similar to that already described in girls with CDKL5 mutations.

Methods: Eight boys (age range 3–16 years, mean age 8.5 years, SD 4.38) with severe or profound mental retardation and early-onset intractable seizures were selected for CDKL5 gene mutation screening by denaturing high-performance liquid chromatography analysis.

Results: We found three unrelated boys carrying three different missense mutations of the CDKL5 gene: c.872G>A (p.C291Y), c.863C>T (p.T288I), and c.533G>C (p.R178P). They presented early-onset, polymorphous, and drug-resistant seizures, mostly myoclonic and tonic or spasms. EEG showed epileptiform abnormalities which were multifocal during wakefulness, and pseudoperiodic bisynchronous during sleep.

Conclusions: This study describes three boys carrying CDKL5 missense mutations and their detailed clinical and EEG data, and indicates that CDKL5 gene mutations may represent a cause of severe or profound mental retardation and early-onset intractable seizures, also in boys. Screening for CDKL5 mutations is strongly recommended in individuals with these clinical features.

Supplemental data at www.neurology.org.

Disclosure: The authors report no disclosures.

Received January 20, 2008. Accepted in final form June 16, 2008.