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

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

Research output: Contribution to journalArticle

28 Citations (Scopus)

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 2004
Externally publishedYes

Fingerprint

Brain Diseases
Chromosomes, Human, Pair 2
Electron Transport
Choline
Thalamus
Brain Stem
Fever
Apoptosis
Mutation
DNA
Genes

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Neilson, D. E., Feiler, H., 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

Autosomal Dominant Acute Necrotizing Encephalopathy Maps to 2q12.1-2q13. / Neilson, Derek E.; Feiler, Heidi; Wilhelmsen, Kirk C.; Lynn, Audrey; Eiben, Robert M.; Kerr, Douglas S.; Warman, Matthew L.

In: Annals of Neurology, Vol. 55, No. 2, 02.2004, p. 291-294.

Research output: Contribution to journalArticle

Neilson, DE, Feiler, H, Wilhelmsen, KC, Lynn, A, Eiben, RM, Kerr, DS & Warman, ML 2004, 'Autosomal Dominant Acute Necrotizing Encephalopathy Maps to 2q12.1-2q13', Annals of Neurology, vol. 55, no. 2, pp. 291-294. https://doi.org/10.1002/ana.10849
Neilson, Derek E. ; Feiler, Heidi ; Wilhelmsen, Kirk C. ; Lynn, Audrey ; Eiben, Robert M. ; Kerr, Douglas S. ; Warman, Matthew L. / Autosomal Dominant Acute Necrotizing Encephalopathy Maps to 2q12.1-2q13. In: Annals of Neurology. 2004 ; Vol. 55, No. 2. pp. 291-294.
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