[HTML][HTML] Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation
I Bertani, L Rusconi, F Bolognese, G Forlani… - Journal of Biological …, 2006 - ASBMB
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified
in patients with Rett syndrome, West syndrome, and X-linked infantile spasms sharing the
common features of generally intractable early seizures and mental retardation. Disease-
causing mutations are distributed in both the catalytic domain and in the large COOH
terminus. In this report, we examine the functional consequences of some Rett mutations of
CDKL5 together with some synthetically designed derivatives useful to underline the …
in patients with Rett syndrome, West syndrome, and X-linked infantile spasms sharing the
common features of generally intractable early seizures and mental retardation. Disease-
causing mutations are distributed in both the catalytic domain and in the large COOH
terminus. In this report, we examine the functional consequences of some Rett mutations of
CDKL5 together with some synthetically designed derivatives useful to underline the …