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doi: 10.1126/science.aao6047 164 RileyJSQuaratoGCloixCLopezJOPreyJPearsonMet al

Therefore, mutations in the PLPBP gene disrupt this process, causing PLP to react with other substrates and impacting the metabolism of important amine or amino acid neurotransmitters in the brain, consequently leading to the development of epilepsy