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@ARTICLE{Damiano:126402,
      author       = {J. A. Damiano and Z. Afawi and M. Bahlo and M.
                      Mauermann$^*$ and A. Misk and T. Arsov and K. L. Oliver and
                      H. M. Dahl and A. E. Shearer and R. J. H. Smith and N. E.
                      Hall and K. Mahmood and R. J. Leventer and I. E. Scheffer
                      and M. Muona and A.-E. Lehesjoki and A. D. Korczyn and H.
                      Herrmann$^*$ and S. F. Berkovic and M. S. Hildebrand},
      title        = {{M}utation of the nuclear lamin gene {LMNB}2 in progressive
                      myoclonus epilepsy with early ataxia.},
      journal      = {Human molecular genetics},
      volume       = {24},
      number       = {16},
      issn         = {1460-2083},
      address      = {Oxford},
      publisher    = {Oxford Univ. Press},
      reportid     = {DKFZ-2017-02431},
      pages        = {4483 - 4490},
      year         = {2015},
      abstract     = {We studied a consanguineous Palestinian Arab family
                      segregating an autosomal recessive progressive myoclonus
                      epilepsy (PME) with early ataxia. PME is a rare, often fatal
                      syndrome, initially responsive to antiepileptic drugs which
                      over time becomes refractory and can be associated with
                      cognitive decline. Linkage analysis was performed and the
                      disease locus narrowed to chromosome 19p13.3. Fourteen
                      candidate genes were screened by conventional Sanger
                      sequencing and in one, LMNB2, a novel homozygous missense
                      mutation was identified that segregated with the PME in the
                      family. Whole exome sequencing excluded other likely
                      pathogenic coding variants in the linked interval. The
                      p.His157Tyr mutation is located in an evolutionarily highly
                      conserved region of the alpha-helical rod of the lamin B2
                      protein. In vitro assembly analysis of mutant lamin B2
                      protein revealed a distinct defect in the assembly of the
                      highly ordered fibrous arrays typically formed by wild-type
                      lamin B2. Our data suggests that disruption of the
                      organisation of the nuclear lamina in neurons, perhaps
                      through abnormal neuronal migration, causes the epilepsy and
                      early ataxia syndrome and extends the aetiology of PMEs to
                      include dysfunction in nuclear lamin proteins.},
      keywords     = {Lamin Type B (NLM Chemicals) / lamin B2 (NLM Chemicals)},
      cin          = {B060 / B065},
      ddc          = {570},
      cid          = {I:(DE-He78)B060-20160331 / I:(DE-He78)B065-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:25954030},
      doi          = {10.1093/hmg/ddv171},
      url          = {https://inrepo02.dkfz.de/record/126402},
}