CDKL5 Proband Entry

Entry ID: cp580

Systematic name: c.2225_2228del

Protein name: p.Glu742Alafs*41

Alternate name(s):

Mutation type: frameshift insertion and/or deletion

Domain: not specified

Pathogenicity class: pathogenic variant

Gender: Male

Phenotype: Not Rett syndrome

Other mutation:

X-inactivation results: Not known

Chromosomal abnormality: Not known

Method of testing: NGS

Source of DNA:

Familial testing: de novo

Familial X-inactivation:

Control screening: No


Source: Lilles, S. Talvik, I. Noormets, K. Vaher, U. Ounap, K. Reimand, T. Sander, V. Ilves, P. Talvik, T. (2016) CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature. Neuropediatrics. 47(6):361-367. Pubmed ID: 27599155

Publication ID: patient 1


Entry last updated on: 2019-10-10 11:03:23

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