A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1)

A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1)

Spongy degeneration with cerebellar ataxia (SDCA) is a severe neurodegenerative disease with monogenic autosomal recessive inheritance in Malinois dogs, one of the four varieties of the Belgian Shepherd breed. We performed a genetic investigation in six families and seven isolated cases of Malinois...

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Bibliographic Details
Main Authors: Nico Mauri, Miriam Kleiter, Michael Leschnik, Sandra Högler, Elisabeth Dietschi, Michaela Wiedmer, Joëlle Dietrich, Diana Henke, Frank Steffen, Simone Schuller, Corinne Gurtner, Nadine Stokar-Regenscheit, Donal O’Toole, Thomas Bilzer, Christiane Herden, Anna Oevermann, Vidhya Jagannathan, Tosso Leeb
Format: Article
Language:English
Published: Oxford University Press 2017-02-01
Series:G3: Genes, Genomes, Genetics
Subjects:
Canis familiaris
Kir4.1
potassium channel
EAST syndrome
SeSAME syndrome
Malinois
neurology
brain
central nervous system
animal model
Online Access:http://g3journal.org/lookup/doi/10.1534/g3.116.038455

Internet

http://g3journal.org/lookup/doi/10.1534/g3.116.038455

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