CDKL5 Proband Entry



Entry ID: cp462

Systematic name: c.609G>C

Protein name: p.Glu203Asp

Alternate name(s): p.E203D

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: likely pathogenic variant

Gender: Female

Phenotype: Rett syndrome - early-onset seizure

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: DHPLC, not stated

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Artuso, R., Mencarelli, M.A., Polli, R., Sartori, S., Ariani, F., Pollazzon, M., Marozza, A., Cilio, M.R., Specchio, N., Vigevano, F., Vecchi, M., Boniver, C., Dalla Bernardina, B., Parmeggiani, A., Buoni, S., Hayek, G., Mari, F., Renieri, A., Murgia, A. (2010) Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. Brain & Development 32:17-24. Pubmed ID: 19362436

Publication ID: Patient 5

Comments: variant called c.609C>G in publication, assumed typo for G>C

Entry last updated on: 2014-10-31 04:42:32

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