CDKL5 Proband Entry



Entry ID: cp199

Systematic name: c.119C>T

Protein name: p.Ala40Val

Alternate name(s): p.A40V

Mutation type: missense

Domain: ATP binding region

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - early onset epileptic encephalopathy

Other mutation:

X-inactivation results: No

Chromosomal abnormality: No

Method of testing: direct, CDKL5

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs122460159

Source: Mei, D., Marini, C., Novara, F., Bernardina, B.D., Granata, T., Fontana, E., Parrini, E., Ferrari, A.R., Murgia, A., Zuffardi, O., Guerrini, R. (2010) Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia 51:647-654. Pubmed ID: 19780792

Publication ID: C

Comments:

Entry last updated on: 2014-03-13 06:10:03

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.119C>T p.Ala40Val Rett syndrome - early seizure Female 17993579 Rosas-Vargas et al (2008) cp57
c.119C>T p.Ala40Val Not Rett syndrome - severe epileptic encephalopathy with infantile spasms Female 17993579 Rosas-Vargas et al (2008) cp58
c.119C>T p.Ala40Val Not Rett syndrome - ISSX Female 22678952 Bahi-Buisson et al (2012) cp452
c.119C>T p.Ala40Val Not Rett syndrome - epileptic encephalopathy Female 22678952 Bahi-Buisson et al (2012) cp453

Displaying a total number of 4 proband entries.