Lissencephaly is a devastating genetic disease of children that affects the embryonic development of the brain. It is caused by haploinsufficiency of the Lis1 gene product, which seems to be ...
Yale researchers discovered that an underactive mTOR pathway drives structural malformations in lissencephaly. Using patient-derived brain organoids, they showed that activating the mTOR pathway ...
Lissencephaly and subcortical band heterotopia are closely related cortical malformations and are true disorders of neuronal migration. The genetic basis of approximately 70% of classic ...
Lissencephaly is a spectrum of rare, genetic disorders in which the brain fails to develop its hallmark folds. The disorders are often associated with seizures and intellectual disability and ...
Once again, this hypothesis has yet to be tested directly on brain tissue. Therefore, both lissencephaly in female subjects and subcortical band heterotopia in male subjects can be due to DCX ...