CDKL5 Proband Entry

Entry ID: cp217

Systematic name: c.283-99C>A

Protein name: p.=

Alternate name(s): intronic variation

Mutation type: intronic variant

Domain: catalytic domain

Pathogenicity class: benign variant

Gender: Female

Phenotype: Not Rett syndrome - infantile intractable epilepsy

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, CDKL5 Exon 2-21

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs4825261

Source: Intusoma, U., Hayeeduereh, F., Plong-On, O., Sripo, T., Vasiknanonte, P., Janjindamai, S., Lusawat, A., Thammongkol, S., Visudtibhan, A., Limprasert, P. (2011) Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity. European Journal of Paediatric Neurology 15:432-438. Pubmed ID: 21775177

Publication ID:


Entry last updated on: 2018-06-05 13:45:42

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