Lissencephaly due to LIS1 mutation
Lissencephaly due to LIS1 mutation
Definition
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 — per MONDO