𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy

✍ Scribed by Romina Combi; Daniele Grioni; Margherita Contri; Serena Redaelli; Francesca Redaelli; Maria Teresa Bassi; Donatella Barisani; Maria Luisa Lavitrano; Giovanni Tredici; Maria Luisa Tenchini; Mario Bertolini; Leda Dalprà

Book ID
116326899
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
542 KB
Volume
79
Category
Article
ISSN
0361-9230

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Clinical and genetic study of a large SP
Clinical and genetic study of a large SPG4 Italian family
✍ Antonio Orlacchio; Toshitaka Kawarai; Fabrizio Gaudiello; Antonio Totaro; Orazio 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 173 KB

## Abstract A novel __SPG4__ 906delT frame‐shift mutation in exon 6 was identified in a large Italian family with an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Intrafamilial phenotypic variations observed in the pedigree included spasticity and additional clinical features, s