𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy

✍ Scribed by Hiltrud Muhle; Ines Steinich; Sarah Von Spiczak; Andre Franke; Yvonne Weber; Holger Lerche; Michael Wittig; Simone Heidemann; Arvid Suls; Peter De Jonghe; Carla Marini; Renzo Guerrini; Ingrid E. Scheffer; Samuel F. Berkovic; Ulrich Stephani; Reiner Siebert; Thomas Sander; Ingo Helbig; Holger Tönnies

Book ID
109112833
Publisher
Wiley (Blackwell Publishing)
Year
2010
Tongue
English
Weight
252 KB
Volume
51
Category
Article
ISSN
0013-9580

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Status epilepticus in a population-based
Status epilepticus in a population-based cohort with childhood-onset epilepsy in Finland
✍ Matti Sillanpää; Shlomo Shinnar 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 106 KB 👁 1 views

## Abstract Little is known about the time course over which status epilepticus occurs in childhood‐onset epilepsy and its impact on long‐term prognosis. A population‐based cohort of 150 children younger than age 16 years with new onset epilepsy between 1961 and 1964 residing in the catchment area

A common 3-bp deletion in the DYT1 gene
A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia
✍ Petr A. Slominsky; Elena D. Markova; Marya I. Shadrina; Sergey N. Illarioshkin; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 76 KB

Hereditary torsion dystonia represent a clinically and genetically heterogeneous group of movement disorders. The most severe and frequent form of hereditary torsion dystonia is early-onset generalized dystonia, DYT1. The DYT1 gene (Ozelius et al, 1997) encodes an ATP-binding protein torsin A. A uni