Kotaro Hayashi

Featured in: Favicon

nature.com Favicon

onlinelibrary.wiley.com

Articles

De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism

Jul 9, 2024 | jci.org | Martina Dalla Riva |Sofia Ferreira |Kotaro Hayashi |Yoann Saillour

AbstractReelin (RELN) is a secreted glycoprotein essential for cerebral cortex development. In humans, recessive RELN variants cause cortical and cerebellar malformations, while heterozygous variants were associated with epilepsy, autism, and mild cortical abnormalities. However, the functional effects of RELN variants remain unknown.

Contact details

Emails

[email protected]

Socials & Sites

Try JournoFinder For Free

Search and contact over 1M+ journalist profiles, browse 100M+ articles, and unlock powerful PR tools.

Start Your 7-Day Free Trial →