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MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY

Known as: EIEE10, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10, MCSZ 
National Institutes of Health

Related topics

Related topics

6 relations
Autosomal recessive inheritanceHyperactive behaviorHypoplasia of the corpus callosumIntellectual disability, severe

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Lingering single-strand breaks trigger Rad51-independent homology-directed repair of collapsed replication forks in the polynucleotide kinase/phosphatase mutant of fission yeast
The DNA repair enzyme polynucleotide kinase/phosphatase (PNKP) protects genome integrity by restoring ligatable 5’-phosphate and… 
2011
2011
The role of human DNA glycosylase NEIL 2 and the single-strand break repair protein polynucleotide kinase 3 '-phosphatase in maintenance of the mitochondrial genome
The repair of reactive oxygen species (ROS)-induced base lesions and single-strand breaks (SSBs) in the nuclear genome via the… 
2010
2010
DNA repair deficiency in a newly identified neurological disease.
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair Shen et al. (2010) Nature Genetics 42(3… 
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