CDKL5 Proband Entry
Entry ID: cp344
Systematic name: c.-162-?_64+?del
Protein name: p.Met1?
Alternate name(s): p.M1? (exon 2 deletion)
Mutation type: exonic deletion or duplication
Domain: 5'UTR
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - epileptic encephalopathy
Other mutation:
X-inactivation results: No
Chromosomal abnormality: No
Method of testing: MLPA, not stated
Source of DNA: not certain
Familial testing: mother negative, father not tested
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: 4
Comments:
Entry last updated on: 2018-06-05 13:45:42
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