Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.

  title={Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.},
  author={Federico Sicca and A. M. Kelemen and Pierre Genton and Soma Das and Davide Mei and Francesca Moro and William B Dobyns and Renzo Guerrini},
  volume={61 8},
BACKGROUND Subcortical band heterotopia (SBH) is a neuronal migration disorder. DCX mutations are responsible for almost all familial cases, 80% of sporadic female cases, and 25% of sporadic male cases of SBH, and are associated with more severe gyral and migration abnormality over the anterior brain regions. Somatic mosaicism has previously been hypothesized in a patient with posteriorly predominant SBH and a mutation of the LIS1 gene, which is usually mutated in patients with severe… CONTINUE READING