chromosomal translocation t(X;6)(p22.3;q14) (early-onset seizures)

- chromosomal translocation t(X;6)(p22.3;q14) involving CDKL5 are found in patients manifesting early-onset seizures, spasms, & psychomotor impairment

Properties

GENERAL: chromosomal translocation FORM: t(X;6)(p22.3;q14) LOCUS: human X-chromosome P22.3 human chromosome-6 Q14 PATHOLOGY: acute leukemia SPLICED-GENES: cyclin-dependent kinase-like 5

References

UniProt :accession O76039