CDKL5 Proband Entry



Entry ID: cp451

Systematic name: c.234delA

Protein name: p.Arg80Valfs*33

Alternate name(s): p.R80fs

Mutation type: frameshift insertion and/or deletion

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - early-onset epileptic encephalopathy

Other mutation:

X-inactivation results: Yes - 54:46

Chromosomal abnormality: Not known

Method of testing: direct, not stated

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Zhao, Y., Zhang, X., Bao, X., Zhang, Q., Zhang, J., Cao, G., Zhang, J., Li, J., Wei, L., Pan, H., Wu, X. (2014) Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. BMC Medical Genetics 15:24. Pubmed ID: 24564546

Publication ID: Patient 10

Comments:

Entry last updated on: 2014-10-31 04:42:32

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