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Article

Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients

25 Feb 2014

Abstract excerpt

BACKGROUND: Mutations in the cyclin-dependent kinase-like 5 (CDKL5) (NM_003159.2) gene have been associated with early-onset epileptic encephalopathies or Hanefeld variants of RTT(Rett syndrome). In order to clarify the CDKL5 genotype-phenotype correlations in Chinese patients, CDKL5 mutational screening in cases with early-onset epileptic encephalopathies and RTT without MECP2 mutation were performed. METHODS:...

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PMID: 24564546
DOI: 10.1186/1471-2350-15-24

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