CDKL5 Proband Entry



Entry ID: cp301

Systematic name: c.745-?_825+?del

Protein name: p.Phe249_Lys275del

Alternate name(s): p.F249_K275del (exon 10 deletion)

Mutation type: exonic deletion or duplication

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - infantile-onset seizures

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: MLPA, MECP2 negative

Source of DNA: not certain

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Maortua, H., Martinez-Bouzas, C., Calvo, M.-T., Domingo, M.-R., Ramos, F., Garcia-Ribes, A., Martinez, M.-J., Lopez-Ariztegui, M.-A., Puente, N., Rubio, I., Tejada, M.-I. (2012) CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain. BMC Medical Genetics 13:68. Pubmed ID: 22867051

Publication ID:

Comments:

Entry last updated on: 2014-03-13 06:13:10

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