CDKL5 Proband Entry
Entry ID: cp108
Systematic name: c.403+49_403+53delTTAAG
Protein name: p.=
Alternate name(s): intronic variation
Mutation type: intronic variant
Domain: serine-threonine kinase site
Pathogenicity class: likely benign variant
Gender: Female
Phenotype: Not Rett syndrome - Early-onset myoclonic epilepsy
Other mutation:
X-inactivation results: No
Chromosomal abnormality: No
Method of testing: DHPLC, exons 2-21
Source of DNA: blood
Familial testing: not in mother, father nnot available
Familial X-inactivation:
Control screening: not found in 100/100 controls
dbSNP ID: rs267608473
Source: Nabbout, R., Depienne, C., Chipaux, M., Girard, B., Souville, I., Trouillard, O., Dulac, O., Chelly, J., Afenjar, A., Heron, D., Leguern, E., Beldjord, C., Bienveru, T., Bahi-Buisson, N. (2009) CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. Epilepsy Research 87:25-30. Pubmed ID: 19734009
Publication ID: patient 21
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.