chromosomal translocation t(X;7)(p22.3;p15) (early-onset seizures)

- chromosomal translocationt(X;7)(p22.3;p15) involving CDKL5 are found in patients manifesting early-onset seizures, spasms & psychomotor impairment

Properties

GENERAL: chromosomal translocation FORM: t(X;7)(p22.3;p15 LOCUS: human X-chromosome P22.3 human chromosome-7 P15 PATHOLOGY: acute leukemia SPLICED-GENES: cyclin-dependent kinase-like 5

References

UniProt :accession O76039