Lissencephaly: Expanded imaging and clinical classification

N. Di Donato; Sara Chiari; G. Mirzaa; K. Aldinger; E. Parrini; C. Olds; A. Barkovich; R. Guerrini; W. Dobyns

DOI:10.1002/ajmg.a.38245

Corpus ID: 3680098

Lissencephaly: Expanded imaging and clinical classification

@article{Donato2017LissencephalyEI,
  title={Lissencephaly: Expanded imaging and clinical classification},
  author={N. Di Donato and Sara Chiari and G. Mirzaa and K. Aldinger and E. Parrini and C. Olds and A. Barkovich and R. Guerrini and W. Dobyns},
  journal={American Journal of Medical Genetics Part A},
  year={2017},
  volume={173},
  pages={1473 - 1488}
}

N. Di Donato, Sara Chiari, +6 authors W. Dobyns

Published 2017

Medicine

American Journal of Medical Genetics Part A

Lissencephaly (“smooth brain,” LIS) is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. The LIS spectrum includes agyria, pachygyria, and subcortical band heterotopia. Our first classification of LIS and subcortical band heterotopia (SBH) was developed to distinguish between the first two genetic causes of LIS—LIS1 (PAFAH1B1) and DCX. However, progress in molecular genetics has led to identification of… CONTINUE READING

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