Lissencephaly due to LIS1 mutation

Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.

Also known as: PAFAH1B1-related lissencephaly, LIS1, lissencephaly 1, lissencephaly sequence, isolated, lissencephaly, classic, subcortical band heterotopia, subcortical laminar heterotopia

0 clinical trials for this condition and its sub-types, 0 tagged with Lissencephaly due to LIS1 mutation itself.