A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome

@article{Portes1998ANC,
  title={A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome},
  author={V. Portes and J. Pinard and P. Billuart and M. C. Vinet and A. Koulakoff and A. Carri{\'e} and A. Gelot and E. Dupuis and J. Motte and Y. Berwald‐Netter and M. Catal{\'a} and A. Kahn and C. Beldjord and J. Chelly},
  journal={Cell},
  year={1998},
  volume={92},
  pages={51-61}
}
  • V. Portes, J. Pinard, +11 authors J. Chelly
  • Published 1998
  • Biology, Medicine
  • Cell
  • X-SCLH/LIS syndrome is a neuronal migration disorder with disruption of the six-layered neocortex. It consists of subcortical laminar heterotopia (SCLH, band heterotopia, or double cortex) in females and lissencephaly (LIS) in males, leading to epilepsy and cognitive impairment. We report the characterization of a novel CNS gene encoding a 40 kDa predicted protein that we named Doublecortin and the identification of mutations in four unrelated X-SCLH/LIS cases. The predicted protein shares… CONTINUE READING
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