Publication at First Faculty of Medicine, Second Faculty of Medicine |
2020
Abstract
Mutations in the RHOBTB2 gene (MIM: 607352) have recently been associated with neurodevelopmental abnormalities, infantile-onset epileptic encephalopathy with various seizure types, intellectual disabilities, postnatal microcephaly with minor facial dysmorphia, and choreic or dystonic syndromes of paroxysmal nature. Here we present a patient with a recurrent RHOBTB2 mutation who had severe paroxysmal choreodystonia and aplasia cutis congenita (ACC), a feature that has not yet been described in association with RHOBTB2 variants, but no epilepsy.