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Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

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Academic year: 2021

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Figure 1 shows that the presence of R229W, X262Q, R225H and R225C led to a reduction in PLP synthesis to 8–15% of the rate catalyzed by wild-type PNPO
Figure 1 (A) PNPO activity (conversion of PMP to PLP) was measured by LC MS/MS and activity expressed as pmol PLP/mg protein
Table 4 Ethnicity of PNPO-deficient patients born at or before 36 weeks gestation and/or required resuscitation at birth and/or had low Apgar scores

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