CDKL5 Proband Entry
Entry ID: cp106
Systematic name: c.191T>C
Protein name: p.Leu64Pro
Alternate name(s): p.L64P
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant
Gender: Male
Phenotype: Not Rett syndrome - severe encephalopathy and early-onset seizures
Other mutation:
X-inactivation results: Yes
Chromosomal abnormality: No
Method of testing: not known, CDKL5 coding region, ARX/MECP2 negative
Source of DNA: blood
Familial testing: not found in healthy mother
Familial X-inactivation:
Control screening: not found in 100/100 controls
dbSNP ID: rs267608435
Source: Fichou, Y., Bieth, E., Bahi-Buisson, N., Nectoux, J., Girard, B., Chelly, J., Chaix, Y., Bienvenu, T. (2009) CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology 73:77-78. Pubmed ID: 19564592
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.