CDKL5 Proband Entry



Entry ID: cp292

Systematic name: c.[1238C>G(;)1400A>C]

Protein name: p.[Ser413*(;)His467Pro]

Alternate name(s): p.[S413X;H467P]

Mutation type: combination/multiple mutations

Domain: not specified

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, array CGH, CDKL5

Source of DNA: blood

Familial testing: both mutations de novo

Familial X-inactivation:

Control screening: not found in 150/150 chromosomes

dbSNP ID:

Source: Liang, J.-S., Shimojima, K., Takayama, R., Natsume, J., Shichiji, M., Hirasawa, K., Kimai, K., Okanishi, T., Mizuno, S., Okumura, A., Sugawara, M., Ito, T., Ikeda, H., Takahashi, Y., Oguni, H., Imai, K., Osawa, M., Yamamoto, T. (2011) CDKL5 alterations lead to early epileptic encephalopathy in both genders. Epilepsia 52:1835-1842. Pubmed ID: 21770923

Publication ID: 10

Comments:

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

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