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      Somatic mutation, genomic variation, and neurological disease.

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          Abstract

          Genetic mutations causing human disease are conventionally thought to be inherited through the germ line from one's parents and present in all somatic (body) cells, except for most cancer mutations, which arise somatically. Increasingly, somatic mutations are being identified in diseases other than cancer, including neurodevelopmental diseases. Somatic mutations can arise during the course of prenatal brain development and cause neurological disease-even when present at low levels of mosaicism, for example-resulting in brain malformations associated with epilepsy and intellectual disability. Novel, highly sensitive technologies will allow more accurate evaluation of somatic mutations in neurodevelopmental disorders and during normal brain development.

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          Author and article information

          Journal
          Science
          Science (New York, N.Y.)
          American Association for the Advancement of Science (AAAS)
          1095-9203
          0036-8075
          Jul 05 2013
          : 341
          : 6141
          Affiliations
          [1 ] Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
          Article
          341/6141/1237758 NIHMS546313
          10.1126/science.1237758
          3909954
          23828942
          b5d99496-5e09-4d27-b683-af601ad5e047
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