Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch–Nyhan Disease: A Case Report and Review of the Literature-Reference-Cited by-同舟云学术

Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch–Nyhan Disease: A Case Report and Review of the Literature

Published:2016 Issue: Volume: Page:23-28
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Christy Alison,Nyhan William,Wilson Jenny

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2016_19

Reference16 articles.

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2. Devinsky O, Hesdorffer DC, Thurman DJ, Lhatoo S, Richerson G (2016) Sudden unexpected death in epilepsy: epidemiology, mechanisms, and prevention. Lancet Neurology 15(10):1075–1088

3. de Gemmis P, Anesi L, Lorenzetto E et al (2010) Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers. Mutat Res 692(1–2):1–5

4. Hesdorffer DC, Crandall LA, Friedman D, Devinsky O (2015) Sudden unexplained death in childhood: a comparison of cases with and without a febrile seizure history. Epilepsia 56:1294–1300

5. Hoefnagel D, Andrew D, Mireault NG, Berndt WO (1965) Hereditary choreoathetosis, self-mutilation and hyperuricemia in young males. NEJM 273(3):130–135

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