Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.

@article{SosseyAlaoui1998HumanD,
  title={Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.},
  author={Khalid Sossey-Alaoui and Andrew J. Hartung and Renzo Guerrini and David K. Manchester and Annio Posar and Alberto Puche-Mira and Eva Andermann and William B Dobyns and Anand K. Srivastava},
  journal={Human molecular genetics},
  year={1998},
  volume={7 8},
  pages={1327-32}
}
Subcortical band heterotopia (SBH) and classical lissencephaly (LIS) result from deficient neuronal migration which causes mental retardation and epilepsy. A single LIS/SBH locus on Xq22.3-q24 was mapped by linkage analysis and physical mapping of the breakpoint in an X;2 translocation. A recently identified gene, doublecortin ( DCX ), is expressed in fetal brain and mutated in LIS/SBH patients. We have identified four novel missense mutations in the gene, one familial mutation with LIS in a… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 40 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 35 references

X-linked lissencephaly and SBH (XLIS): mapping of a novel neuronal migration gene

A. K. Srivastava, M. E. Ross, +9 authors W. A. Dobyns
Am. J. Hum. Genet ., • 1996
View 4 Excerpts
Highly Influenced

Platelet-activating factor receptor stimulation disrupts neuronal migration In vitro.

The Journal of neuroscience : the official journal of the Society for Neuroscience • 1998

Similar Papers

Loading similar papers…