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1. Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients.

Author

Leitão Ermel, Érica, Caroline Carneiro, Lauriane, Moura de Souza, Carolina Fischinger, de Souza Crippa, Ana Chrystina, Vieira Sanseverino, Maria Teresa, and Raskin, Salmo

Abstract

The article discusses the clinical condition and characterization of two Brazilian epileptic patients with mutations in the CDKL5 gene. One of the patients has atypical Rett syndrome related to abnormalities in the CDKL5 gene. Both patients experienced symptoms of severe developmental delay, axial hypotonia, early onset seizures and hypsarrhythmia. The electroencephalography revealed that the patients have refractory epilepsy with multifocal activity.

Published
2013
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