Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

ABSTRACT: TUBA1A tubulinopathy is a rare neurodevelopmental disorder associated with brain malformations as well as early-onset and intractable epilepsy. As pathomechanisms and genotype-phenotype correlations are not completely understood, we aimed to provide further insights into the phenotypic and genetic spectrum. We here present a multicenter case series of ten unrelated individuals from four European countries using systematic MRI re-evaluation, protein structure analysis, and prediction score modeling. In two cases, pregnancy was terminated due to brain malformations. Amongst the eight living individuals, the phenotypic range showed various severity. Global developmental delay and severe motor impairment with tetraparesis was present in 63% and 50% of the subjects, respectively. Epilepsy was o

SUBMITTER: Schroter J 

PROVIDER: S-EPMC8904761 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature