Abstract
Our results support the deleterious role of SLC1A4 variants and highlight the need of considering this entity, regardless of ethnicity, in pediatric patients presenting with unexplained neurodevelopmental delay and progressive microcephaly, associated or not with spastic tetraplegia or early onset epileptic encephalopathy.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have