This website provides information on patients with mutations in the EML1 gene, including clinical data, molecular data, management and research options.

Megalencephaly with ribbon-like heterotopia is caused by bi-allelic mutations in the EML1 gene. It is a neurodevelopmental disorder characterized by megalencephaly, intellectual disability, seizures, visual impairment and abnormal brain imaging consisting of ribbon-like subcortical heterotopia, polymicrogyria-like cortex, agenesis of the corpus callosum, and hydrocephalus/ enlarged ventricles. Not all individuals with a mutation in the EML1 gene have all these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the EML1 gene.

Renske Oegema, clinical geneticist, MD, PhD, UMC Utrecht, Utrecht, the Netherlands, r.oegema@umcutrecht.nl

Maarten Lequin, neuroradiologist, MD, PhD, UMC Utrecht, Utrecht, the Netherlands, m.h.lequin@umcutrecht.nl

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