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Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A

✍ Scribed by Krista Mahoney; Susan J. Moore; David Buckley; Muhammed Alam; Patrick Parfrey; Sharon Penney; Nancy Merner; Kathy Hodgkinson; Terry-Lynn Young


Book ID
116880578
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
314 KB
Volume
18
Category
Article
ISSN
1059-1311

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Aceruloplasminemia: A novel mutation in
✍ Alfonso Fasano; Cesare Colosimo; Hiroaki Miyajima; Pietro Attilio Tonali; Thomas πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 189 KB

## Abstract Hereditary aceruloplasminemia (HA) is a rare inherited disease characterized by anemia, iron overload, diabetes, and neurodegeneration. HA is caused by the homozygous mutation of the ceruloplasmin (CP) gene. We report two siblings with markedly different phenotypes carrying a novel muta