CDKL5 Proband Entry



Entry ID: cp59

Systematic name: c.659T>C

Protein name: p.Leu220Pro

Alternate name(s): p.L220P

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - severe epileptic encephalopathy with infantile spasms

Other mutation:

X-inactivation results: Yes - random

Chromosomal abnormality: Not known

Method of testing: DHPLC, exons 2 - 21

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: not found in 100/100 controls

dbSNP ID: rs267608511

Source: Rosas-Vargas, H., Bahi-Buisson, N., Philippe, C., Nectoux, J., Girard, B., N'Guyen Morel, M.A., Gitiaux, C., Lazaro, L., Odent, S., Jonveaux, P., Chelly, J., Bienvenu, T. (2008) Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. J Med Genet 45:172-178. Pubmed ID: 17993579

Publication ID:

Comments:

Entry last updated on: 2014-03-13 06:06:07

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