This website provides information on patients with mutations in the LMNB2 gene, including clinical data, molecular data, management and research options.

The two syndromes caused by mutation of the LMNB2 gene are:

Recessive progressive myoclonic epilpesy syndrome with ataxia and intention tremor. Not all individuals with a mutation in the LMNB2 gene have these features.

Dominant severe microcephaly syndrome with global developmental delay and intellectual disability of variable degree, and seizures. Not all individuals with a mutation in the LMNB2 gene have 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 LMNB2 gene.

Professor Michael Hildebrand, PhD, Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Murdoch Children’s Research Institute, Melbourne, Australia, michael.hildebrand@unimelb.edu.au
Professor Samuel Berkovic, MD, Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia, s.berkovic@unimelb.edu.au