CDKL5 Proband Entry

Entry ID: cp334

Systematic name: c.1784dupG

Protein name: p.Leu596Thrfs*15

Alternate name(s): p.L596TfsX15

Mutation type: frameshift insertion and/or deletion

Domain: not specified

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - early-onset epilepsy with severe intellectual disability

Other mutation:

X-inactivation results: No

Chromosomal abnormality: No

Method of testing: not specified, MECP2 negative

Source of DNA: not certain

Familial testing: not in mother, father DNA not available

Familial X-inactivation:

Control screening: No


Source: Stalpers, X., Spruijt, L., Yntema, H.G., Verrips, A. (2012) Clinical phenotype of 5 females with a CDKL5 mutation. Journal of Child Neurology 27:90-93. Pubmed ID: 21765152

Publication ID: 5


Entry last updated on: 2018-06-05 13:45:42

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