CDKL5 Proband Entry



Entry ID: cp299

Systematic name: c.2277-2A>G

Protein name: p.?

Alternate name(s): p.K760?

Mutation type: splicing variant

Domain: not specified

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - infantile-onset seizure

Other mutation:

X-inactivation results: No

Chromosomal abnormality: No

Method of testing: not specified, MECP2, UBE3A, SCN1A negative

Source of DNA: not certain

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Paine, S.M.L., Munot, P., Charmichael, J., Das, K., Weber, M.A., Prabhakar, P., Jacques, T.S. (2012) The neuropathological consequences of CDKL5 mutation. Neuropathology and Applied Neurobiology 38:744-747. Pubmed ID: 22812903

Publication ID:

Comments:

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

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