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- W2754564892 abstract "Objective: Vitamin B6 dependent epilepsy with neonatal seizure onset is a heterogeneous clinical entity with defects in two known genes (ALDH7A1 and PNPO) explaining a major fraction of cases. Mutations in a further gene, ALPL, can also cause vitamin B6 dependent epilepsy, but predominantly presents as bone disease. Very recently biallelic mutations in PROSC suggested this gene as a novel cause in five families. Methods: We performed trio whole exome sequencing in two unrelated patients and an additional PROSC screen by Sanger sequencing in another 9 patients with vitamin B6 dependent epilepsy but unclear genetic background. Results: We identified four unrelated patients harboring a total of six different PROSC gene mutations, including four novel disease causing mutations. We present the clinical phenotype, pyridoxine response and plasma vitamin B6 profile of these patients. Conclusions: The clinical and electroencephalographic phenotype in patients with PROSC gene mutations is indistinguishable from the previously known genes, ALDH7A1 and PNPO." @default.
- W2754564892 created "2017-09-25" @default.
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- W2754564892 date "2017-06-01" @default.
- W2754564892 modified "2023-10-14" @default.
- W2754564892 title "Confirmation of mutations in the PROSC gene as a novel cause of vitamin B6 dependent epilepsy" @default.
- W2754564892 doi "https://doi.org/10.1016/j.ejpn.2017.04.871" @default.
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