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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 8, 2024. (Total: 232338Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Seizures and PNPO[original query]
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Brain : a journal of neurology 2014 May 137 (Pt 5): 1350-60.
Mills Philippa B, Camuzeaux Stephane S M, Footitt Emma J, Mills Kevin A, Gissen Paul, Fisher Laura, Das Krishna B, Varadkar Sophia M, Zuberi Sameer, McWilliam Robert, Stödberg Tommy, Plecko Barbara, Baumgartner Matthias R, Maier Oliver, Calvert Sophie, Riney Kate, Wolf Nicole I, Livingston John H, Bala Pronab, Morel Chantal F, Feillet François, Raimondi Francesco, Del Giudice Ennio, Chong W Kling, Pitt Matthew, Clayton Peter
A Rare Presentation Characterized by Epileptic Spasms in ALDH7A1, Pyridox(am)ine-5'-Phosphate Oxidase, and PLPBP Deficiency.
Frontiers in genetics 2022 5 13 804461.
Jiao Xianru, Gong Pan, Niu Yue, Zhang Yuehua, Yang Zhixi
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