epilepsy
Three patients carrying FOLR1 mutations developed progressive movement disturbance, psychomotor decline, and epilepsy and showed severely reduced folate concentrations in the cerebrospinal fluid (CSF).
Three patients carrying <span class="gene" id="19732866-4-24-29">FOLR1</span> mutations developed progressive movement disturbance, psychomotor decline, and <span class="disease" id="19732866-4-109-117">epilepsy</span> and showed severely reduced folate concentrations in the cerebrospinal fluid (CSF).