SARENUR GÖKBEN, Gül SERDAROĞLU, SANEM KESKİN YILMAZ, Thierry BİENVENU, Serdar CEYLANER

Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene

Cyclin-dependent kinase-like 5 gene-related epileptic encephalopathy is gradually becoming better known in child neurology practice. The related gene mutations cause early infantile epileptic encephalopathy characterized by intractable epilepsy, severe mental retardation and, later, the development of Rett syndrome-like features. Herein, we report the first two Turkish cases of cyclin-dependent kinase-like 5 gene-related epileptic encephalopathy with novel mutations in exon 8, which is located in the catalytic domain of the gene.

PDF

___

1. Engel J Jr. Report of the ILAE classification core group. Epilepsia 2006; 47: 1558-1568.

2. Berg AT, Berkovic SF, Brodie MJ, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009. Epilepsia 2010; 51: 676-685.

3. Fehr S, Wilson M, Downs J, et al. The CDKL5 disorder is an independent clinical entity associated with earlyonset encephalopathy. Eur J Hum Genet 2013; 21: 266-273.

4. Bahi-Buisson N, Kaminska A, Boddaert N, et al. The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia 2008; 49: 1027-1037.

5. Guerrini R, Parrini E. Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene–related encephalopathies. Epilepsia 2012; 53: 2067-2078.

6. Artuso R, Mencarelli MA, Polli R, et al. Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. Brain Dev 2010; 32: 17-24.

7. Melani F, Mei D, Pisano T, et al. CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Dev Med Child Neurol 2011; 53: 354-360.

8. Neul JL, Kaufmann WE, Glaze DG, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol 2010; 68: 944-950.

9. Mei D, Marini C, Novara F, et al. Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia 2010; 51: 647–654.

10. Bahi-Buisson N, Nectoux J, Rosas-Vargas H, et al. Key clinical features to identify girls with CDKL5 mutations. Brain 2008; 131: 2647-2661.

11. Kilstrup-Nielsen C, Rusconi L, La Montanara P, et al. What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy. Neural Plast 2012; 2012: 728267.

12. Mari F, Azimonti S, Bertani I, et al. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet 2005; 14: 1935-1946.