CDKL5 Proband Entry



Entry ID: cp225

Systematic name: c.473G>C

Protein name: p.Arg158Pro

Alternate name(s): p.R158P

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: likely pathogenic variant

Gender: Male

Phenotype: Not Rett syndrome - epileptic encephalopathy

Other mutation:

X-inactivation results: Not applicable

Chromosomal abnormality: Not known

Method of testing: direct, CDKL5

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Melani, F., Mei, D., Pisano, T., Savasta, S., Franzoni, E., Ferrari, A.R., Marini, C., Guerrini, R. (2011) CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Developmental Medicine & Child Neurology 53:354-360. Pubmed ID: 21309761

Publication ID: 1

Comments:

Entry last updated on: 2014-03-13 06:11:43

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