ELIF YILDIRIM, HUSEYIN TAN, FILIZ KESKIN

Introduction: Susceptibility to idiopathic generalized epilepsy-15 related RORB (retinoid-related orphan receptor b) gene is an autosomal dominant inherited disease characterized by variable seizure types. RORB gene expressed in cortex, spinal cord, and pituitary is hypothesized to have a role in neuronal cell differentiation. Therefore, pathogenic variants obtained by mutations can alter the function of the gene appearing by different clinical phenotypes of epilepsy. Case report: We describe the case of two adolescent patients from the same family affected by generalized, focal, and predominantly absence seizures, intellectual disability, attention deficit hyperactivity disorder, gait disturbance, and happy demeanor with a heterozygous mutation of the RORB gene on chromosome 9q22. Also, their father had the same clinical symptoms. Conclusions: In this case report; we show a happy demeanor, a previously unidentified phenotypic trait, and it is the first time that gait disturbance described in humans associated with the RORB gene before in mice.

Keywords: gait disturbance,happy demeanor,epilepsy,RORB gene

ELIF YILDIRIM
Ataturk University Faculty of Medicine
Turkey

HUSEYIN TAN
Ataturk University Faculty of Medicine
Turkey

FILIZ KESKIN
Ataturk University Faculty of Medicine
Turkey