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1MD, Faculdade Evangelica do Parana, Curitiba PR, Brazil; 2MD, Medical Genetic Service, Hospital de Clinicas de Porto Alegre RS, Brazil; 3MD, PhD, Neurophysiologist, Neurology Division, Internal Medicine Department, Hospital de Clinicas, Universidade Federal do Parana, Curitiba PR, Brazil; 4MD, PhD, Medical Genetic Service, Hospital de Clinicas de Porto Alegre RS, Brazil; 5MD, PhD, Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Science (PPGCS), Health and Biosciences School (ESB), Pontificia Universidade Catolica do Parana (PUCPR), Curitiba PR, Brazil. Correspondence: Erica Leitao Ermel; Rua Weyner Junior Maciel Alves 320 / Condominio Royal Golf; 86055-500 Londrina PR Brasil; E-mail: ericaermels@yahoo.com.br Conflict of interest: There is no conflict of interest to declare. Received 20 March 2012; Received in final form 01 February 2013; Accepted 08 February 2013.

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