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Object Inorder to clarify the CDKL5 genemutational spectrum and the clinical features in Chinese patients, CDKL5 mutation screening in cases withearly-onset epileptic encephalopathies and Rett syndrome were performed. Method The detailed clinicalinformation of 102 Chinese patients withearly-onset epileptic encephalopathies and atypical Rett syndrome wascollected. CDKL5 gene mutations wereanalyzed by PCR, direct sequence and MLPA. The patterns of X-chromosomeinactivation were studied.Result The de novo CDKL5gene mutations were found in tenpatients. The common features of the patients with CDKL5 gene mutations included refractory seizures startingbefore 4 months of age, severepsychomotor retardation, Rett-likefeatures such as hand stereotypies, deceleration of head growth after birth, andpoor prognosis. The X-chromosome inactivation patterns of all the femalepatients were random. Conclusion Mutations in CDKL5 gene account for 12.6% of 71 girls and 3.2% of 31boys with early-onsetepileptic encephalopathies or the Hanefeld variant of Rett syndrome. CDKL5 gene mutations analysis should be considered in bothgenders, and the test plays an important role in genetic counseling and the judgment of the prognosis ofthe patients.

CDKL5 mutations; early-onset epileptic encephalopathy; X chromosome inactivation