Successful management of refractory epilepsy in creatine transporter deficiency with cannabidiol and clobazam: A case report

Abstract Plain Language Summary: Creatine transporter deficiency (CRTR‐D) is a rare genetic disorder causing mental, behavioral, and movement problems. More than half of patients also have seizures, but because there are fewer than 200 known cases, it is difficult to know the best treatment options. We present a 28‐year‐old man with CRTR‐D who had severe developmental delays and frequent seizures since childhood, despite trying many medications. After starting cannabidiol and clobazam, he has been seizure‐free for a year. Sharing this