Autosomal Dominant Acute Necrotizing Encephalopathy Maps to 2q12.1-2q13

Derek E. Neilson, Heidi S. Feiler, Kirk C. Wilhelmsen, Audrey Lynn, Robert M. Eiben, Douglas S. Kerr, Matthew L. Warman

Research output: Contribution to journalArticle

29 Scopus citations

Abstract

In autosomal dominant acute necrotizing encephalopathy (ADANE), apparently healthy children develop necrotizing lesions in their thalami and brainstems in the course of febrile illnesses. We used DNA from affected subjects and obligate carriers to map ADANE to a 6.5Mb region on chromosome 2. Sequencing of four candidate genes in the interval (BCL2L11, ST6GalII, CHT1, and FLJ20019), involved in apoptosis, viral recognition, choline transport, and electron transport, showed no disease causing mutations.

Original languageEnglish (US)
Pages (from-to)291-294
Number of pages4
JournalAnnals of Neurology
Volume55
Issue number2
DOIs
StatePublished - Feb 1 2004

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Neilson, D. E., Feiler, H. S., Wilhelmsen, K. C., Lynn, A., Eiben, R. M., Kerr, D. S., & Warman, M. L. (2004). Autosomal Dominant Acute Necrotizing Encephalopathy Maps to 2q12.1-2q13. Annals of Neurology, 55(2), 291-294. https://doi.org/10.1002/ana.10849