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: 2014-03-13 06:07:05

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