Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3036457 | Brain and Development | 2016 | 4 Pages |
Abstract
We report the clinical course in two male infants (P1, P2) with ANE1 and a variable clinical course and outcome. One patient is heterozygous for the most common RANBP2 missense mutation p.Thr585Met. In the other patient we observed a novel de novo missense mutation p.Trp681Cys in the RANBP2 gene causing recurrent ANE. Clinical and radiological features are presented and differential diagnoses are discussed. This report adds to the current knowledge of the phenotype in ANE, caused by mutations in RANBP2 gene.
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Authors
Katharina Sell, Katja Storch, Gabriele Hahn, Min Ae Lee-Kirsch, Georgia Ramantani, Sandra Jackson, Derek Neilson, Maja von der Hagen, Ute Hehr, Martin Smitka,