CDKL5 Proband Entry
Entry ID: cp90
Systematic name: c.863C>T
Protein name: p.Thr288Ile
Alternate name(s): p.T288I
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: pathogenic variant
Gender: Male
Phenotype: Not Rett syndrome - Severe encephalopathy and early-onset seizures
Other mutation:
X-inactivation results: Not applicable
Chromosomal abnormality: No
Method of testing: DHPLC, all exons
Source of DNA: blood
Familial testing: not found in healthy mother
Familial X-inactivation:
Control screening: not found in 400/400 chromosomes
dbSNP ID: rs267606713
Source: Elia, M., Falco, M., Ferri, R., Spalletta, A., Bottitta, M., Calabrese, G., Carotenuto, M., Musumeci, S.A., Lo Giudice, M., Fichera, M. (2008) CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology 71:997-999. Pubmed ID: 18809835
Publication ID:
Comments:
Entry last updated on: 2018-06-05 13:45:42
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There are no other entries in the database with a similar genotype.