Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy
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Publisher
England: BMJ Publishing Group Ltd
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Language
English
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Publisher
England: BMJ Publishing Group Ltd
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Contents
Vitamin-B6-dependent epilepsies are a heterogenous group of treatable disorders due to mutations in several genes (ALDH7A1, PNPO, ALPL or ALDH4A1). In neonatal seizures, defects in ALDH7A1 and PNPO explain a major fraction of cases. Very recently biallelic mutations in PROSC were shown to be a novel cause in five families. We identified four furthe...
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Full title
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy
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TN_cdi_proquest_miscellaneous_1886346123
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1886346123
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ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2017-104521
