TUBA1A-related tubulinopathy associated with the infantile epileptic spasms syndrome and atypical absence seizures

Epileptic Disord. 2025 Jul 29. doi: 10.1002/epd2.70072. Online ahead of print.

ABSTRACT

Patients with TUBA1A pathogenic variants may present with complex brain malformation, intellectual disability, and epilepsy. The epilepsy phenotype is varied, ranging from mild to severe, with epileptic spasms and focal seizures being the most common seizure types. We report on an infant with a TUBA1A variant presenting with an evolving epileptic encephalopathy. Initially, this patient presented with infantile epileptic spasms syndrome, with the eventual appearance of atypical absence seizures before the age of 1 year. We discuss the initial diagnostic uncertainty that was raised by the finding of early onset absence epilepsy and review the other TUBA1A-related seizure types reported in the literature.

PMID:40729534 | DOI:10.1002/epd2.70072