CDKL5 Proband Entry



Entry ID: cp226

Systematic name: c.404-1G>A

Protein name: p.?

Alternate name(s): intronic variation

Mutation type: splicing variant

Domain: serine-threonine kinase site

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - epileptic encephalopathy

Other mutation:

X-inactivation results: No

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: 6

Comments:

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

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