Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
Maria Carla BorrotoHeena PatelSiddharth SrivastavaLindsay C SwansonBoris KerenSandra WhalenCyril MignotXiaodong WangQian ChenJill A RosenfeldScott McLeanRebecca O Littlejohnnull nullLisa EmrickLindsay C BurrageRuben AttaliGaetan LescaCecile Acquaviva-BourdainCatherine SarretLaurie H SeaverKonrad PlatzerTobias BartolomaeusCornelia WünschSusann FischerAna Maria Rodriguez BarretoJorge L GranadilloElisabeth SchreinerTheresa BrunetUlrich A SchatzIsabelle ThiffaultSureni V MullegamaJacques L MichaudFadi F HamdanElsa RossignolPhilippe M CampeauPublished in: Pediatric neurology (2024)
Similar to other Rab-related disorders, RAB11A-associated neurodevelopmental disorder can also impact gait, tonus, brain anatomy and physiology, vision, adrenarche, and body weight and structure. Epilepsy seems to affect the minority of patients with variants outside the binding sites.