Progressive Microcephaly, Spasticity and Development Delay: Novel SLC1A4 Variants in Two Portuguese Families and Literature Review

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.