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A Novel WDR45 Mutation in a 9-Month-Old Male Infant with Epileptic Spasms
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- Author:
- No author available
- Journal Title:
- Chinese Medical Journal
- Issue:
- 24
- DOI:
- 10.4103/0366-6999.247216
- Key Word:
- No keyword available
Abstract： To the Editor: Neurodegeneration with brain iron accumulation (NBIA) comprises a group of disorders that manifest as early- or late-onset parkinsonism, dystonia, spasticity, and cognitive impairment.
- [1]Okamoto, Nobuhiko,Ikeda, Tae,Hasegawa, Tatsuji,etc.Early Manifestations of BPAN in a Pediatric Patient[J].2014,164A(12).
- [2]Xixis, Kathryn I.,Mikati, Mohamad A..Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation[J].2015,17(4).
- [3]Takano, Kyoko,Shiba, Naoko,Wakui, Keiko,etc.Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature[J].2016,170A(2).
- [4]Zhao, Yan G.,Sun, Le,Miao, Guangyan,etc.The autophagy gene Wdr45/Wipi4 regulates learning and memory function and axonal homeostasis[J].2015,11(6).