CDKL5 Proband Entry
Entry ID: cp343
Systematic name: c.207_213del7
Protein name: p.Glu70Leufs*4
Alternate name(s): p.E70Lfs*4
Mutation type: frameshift insertion and/or deletion
Domain: catalytic domain
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - epileptic encephalopathy
Other mutation:
X-inactivation results: No
Chromosomal abnormality: No
Method of testing: direct, not stated
Source of DNA: not certain
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Jahn, J., Caliebe, von Spiczak, S. Boor, R., Stefanova, I., Stephani, U., Helbig, I., Muhle, H. (2013) CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients. Journal of Child Neurology 28:937-941. Pubmed ID: 22832775
Publication ID: 3
Comments:
Entry last updated on: 2018-06-05 13:45:42
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There are no other entries in the database with a similar genotype.