✦ LIBER ✦

Novel Mutation in Potassium Channel related Gene KCTD7 and Progressive Myoclonic Epilepsy

✍ Scribed by Birgit Krabichler; Kevin Rostasy; Matthias Baumann; Daniela Karall; Sabine Scholl-Bürgi; Christoph Schwarzer; Kurt Gautsch; Ana Spreiz; Dieter Kotzot; Johannes Zschocke; Christine Fauth; Edda Haberlandt

Book ID: 115249864
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 973 KB
Volume: 76
Category: Article
ISSN: 0003-4800
DOI: 10.1111/j.1469-1809.2012.00710.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation of a potassium channel–related

Mutation of a potassium channel–related gene in progressive myoclonic epilepsy

✍ Patrick Van Bogaert; Regis Azizieh; Julie Désir; Alec Aeby; Linda De Meirleir; J 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 725 KB

## Abstract ## Objective We investigated a large consanguineous Moroccan family with progressive myoclonic epilepsy (PME) consistent with autosomal recessive inheritance, to describe the phenotype and identify the causal gene. ## Methods We recorded the clinical course of the disease and the res

Progressive Myoclonic Epilepsy-Associate

Progressive Myoclonic Epilepsy-Associated Gene KCTD7 is a Regulator of Potassium Conductance in Neurons

✍ Régis Azizieh; David Orduz; Patrick Van Bogaert; Tristan Bouschet; Wendy Rodrigu 📂 Article 📅 2011 🏛 Springer 🌐 English ⚖ 547 KB

Autosomal recessive cortical myoclonic t

Autosomal recessive cortical myoclonic tremor and epilepsy: Association with a mutation in the potassium channel associated gene CNTN2

✍ Stögmann, E. 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 67 KB

Progressive ataxia and myoclonic epileps

Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in theFOLR1gene

✍ Belén Pérez-Dueñas; Claudio Toma; Aida Ormazábal; Jordi Muchart; Francesc Sanmar 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 582 KB

A nonsense mutation in the LIMP-2 gene a

A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome

✍ Balreira, A.; Gaspar, P.; Caiola, D.; Chaves, J.; Beirao, I.; Lima, J. L.; Azeve 📂 Article 📅 2008 🏛 Oxford University Press 🌐 English ⚖ 176 KB

A pore mutation in a novel KQT-like pota

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

✍ Charlier, Carole; Singh, Nanda A.; Ryan, Stephen G.; Lewis, Tracey B.; Reus, Bon 📂 Article 📅 1998 🏛 Nature Publishing Group 🌐 English ⚖ 566 KB