Absent Septum Pellucidum Without Polymicrogyria or Seizures in TCP1-Related Neurodevelopmental Disorder

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20 Oct 2026 0 comments

T-complex protein 1 (TCP1) encodes the TCP1α subunit, one of eight subunits of the chaperonin containing TCP1 ring complex (TRiC). Heterozygous TCP1 variants cause autosomal dominant neurodevelopmental disorder characterized by developmental delay or intellectual disability, seizures, pyramidal or cerebellar signs, and brain malformations, particularly polymicrogyria. However, the reported clinical spectrum remains limited. We report a 4-year-old girl with global developmental delay, speech and...