Dysfunction of the heteromeric Kv7.3/Kv7.5 potassium channel is associated with autism spectrum disorders

Dysfunction of the heteromeric Kv7.3/Kv7.5 potassium channel is associated with autism spectrum disorders

Heterozygous mutations in the KCNQ3 gene on chromosome 8q24 encoding the voltage-gated potassium channel KV7.3 subunit have previously been associated with rolandic epilepsy and idiopathic generalized epilepsy (IGE) including benign neonatal convulsions. We identified a de novo t(3;8)(q21;q24) trans...

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Bibliographic Details
Main Authors: Mette eGilling, Hanne Borger Rasmussen, Kirstine eCalloe, Ana Filipa Sequeira, Marta eBaretto, Guiomar eOliveira, Joana eAlmeida, Marlene Briciet Lauritsen, Reinhard eUllmann, Susanne Eriksen Boonen, Karen eBrøndum-Nielsen, Vera M Kalscheuer, Zeynep eTümer, Astrid M. Vicente, Nicole eSchmitt, Niels eTommerup
Format: Article
Language:English
Published: Frontiers Media S.A. 2013-04-01
Series:Frontiers in Genetics
Subjects:
autism
SNP
translocation
KCNQ3
KCNQ5
KV7.3
Online Access:http://journal.frontiersin.org/Journal/10.3389/fgene.2013.00054/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fgene.2013.00054/full

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