Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

@inproceedings{Shen2010MutationsIP,
  title={Mutations in PNKP cause microcephaly, seizures and defects in DNA repair},
  author={Jun Shen and Edward C. Gilmore and Christine A. Marshall and Mary H Haddadin and J. Joshua Reynolds and Wafaa M Eyaid and Adria L Bodell and Kathryn A. Allen and Bernard S. Chang and Arthur Grix and Robert Sean Hill and M Fatih Topçu and Keith W. Caldecott and A. James Barkovich and Christopher A. Walsh},
  booktitle={Nature Genetics},
  year={2010}
}
Maintenance of DNA integrity is crucial for all cell types, but neurons are particularly sensitive to mutations in DNA repair genes, which lead to both abnormal development and neurodegeneration. We describe a previously unknown autosomal recessive disease characterized by microcephaly, early-onset, intractable seizures and developmental delay (denoted MCSZ… CONTINUE READING