MALFORMATION: One of the causes of lissencephaly is mutation of the CEP85L gene, which might not be hereditary, a researcher said, urging prenatal controls

Taipei Times
Date: Sep 23, 2020.
By: Lee I-chia / Staff reporter

Researchers yesterday said that they have identified a gene that is an important cause for posterior predominant lissencephaly, a rare brain disorder.

Kaohsiung Chang Gung Memo8rial Hospital’s Department of Neurology Epilepsy Section director Tsai Meng-han (蔡孟翰) said that the brain normally has folds, or gyri, which correlate with specific cognitive abilities.

However, people with lissencephaly have gyral malformations that cause parts or the entire surface of their brains to appear smooth, which gives the disorder its name, meaning “smooth brain.”

Lissencephaly is a rare brain malformation caused by gene mutations, with an incidence rate of about 12 per million among newborns, he said, adding that there are an estimated 300 cases in Taiwan.    [FULL  STORY]