title: Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients.
authors.forename: Erica Leitão
authors.initials: EL
authors.lastname: Ermel
authors.forename: Lauriane Caroline
authors.initials: LC
authors.lastname: Carneiro
authors.forename: Carolina Fischinger Moura de
authors.initials: CF
authors.lastname: Souza
authors.forename: Ana Chrystina de Souza
authors.initials: AC
authors.lastname: Crippa
authors.forename: Maria Teresa Vieira
authors.initials: MT
authors.lastname: Sanseverino
authors.forename: Salmo
authors.initials: S
authors.lastname: Raskin
mesh_terms: D001938:Brazil; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D015518:Rett Syndrome / Q000235:genetics* / Q000473:pathology; D013036:Spasms, Infantile / Q000235:genetics* / Q000473:pathology
chemical_list: D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human