Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

• Main Authors: Carla De Angelis (Author), Alicia B. Byrne (Author), Rebecca Morrow (Author), Jinghua Feng (Author), Thuong Ha (Author), Paul Wang (Author), Andreas W. Schreiber (Author), Milena Babic (Author), Ajay Taranath (Author), Nick Manton (Author), Sarah L. King-Smith (Author), Quenten Schwarz (Author), Peer Arts (Author), Hamish S. Scott (Author), Christopher Barnett (Author)
• Formato: Livro
• Publicado em: BMC, 2021-02-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well characterised and we present a case that provides insights into the cause of posterior PNH....