Specific forms of epilepsy, a form of autism and a related severe neurological condition, named cerebral folate deficiency syndrome (CFD) are caused by maternal autoantibodies to FRα that block the transfer of folate from foetal blood into the foetal brain leading to profound folate deficiency and resulting in poor development and progressively severe neurological signs and symptoms after birth [11,12,13,14,15,16,17,18]. Here, FOLR1 is linked to folate deficiency.