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: 2014-03-13 06:07:05

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