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  Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders

Gilling, M., Rasmussen, H. B., Calloe, K., Sequeira, A. F., Baretto, M., Oliveira, G., et al. (2013). Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders. Frontiers in Genetics, 4, 4:54-4:54. doi:10.3389/fgene.2013.00054.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0018-F321-3 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0018-F323-0
Genre: Journal Article

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© 2013 Gilling, Rasmussen, Calloe, Sequeira, Baretto, Oliveira, Almeida, Lauritsen, Ullmann, Boonen, Brondum-Nielsen, Kalscheuer, Tümer, Vicente, Schmitt and Tommerup
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 Creators:
Gilling, M., Author
Rasmussen, H. B., Author
Calloe, K., Author
Sequeira, A. F., Author
Baretto, M., Author
Oliveira, G., Author
Almeida, J., Author
Lauritsen, M. B., Author
Ullmann, R.1, Author              
Boonen, S. E., Author
Brondum-Nielsen, K., Author
Kalscheuer, V. M.2, Author              
Tumer, Z., Author
Vicente, A. M., Author
Schmitt, N., Author
Tommerup, N., Author
Affiliations:
1Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, Ihnestr. 73, 14195 Berlin, Germany, ou_1479645              
2Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, Ihnestr, 73, 14195 Berlin, Germany, ou_1479642              

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Free keywords: Autism, KCNQ3, KCNQ5, KV7.3, KV7.5, translocation, SNP
 Abstract: 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) translocation truncating KCNQ3 in a boy with childhood autism. In addition, we identified a c.1720C > T [p.P574S] nucleotide change in three unrelated individuals with childhood autism and no history of convulsions. This nucleotide change was previously reported in patients with rolandic epilepsy or IGE and has now been annotated as a very rare SNP (rs74582884) in dbSNP. The p.P574S KV7.3 variant significantly reduced potassium current amplitude in Xenopus laevis oocytes when co-expressed with KV7.5 but not with KV7.2 or KV7.4. The nucleotide change did not affect trafficking of heteromeric mutant KV7.3/2, KV7.3/4, or KV7.3/5 channels in HEK 293 cells or primary rat hippocampal neurons. Our results suggest that dysfunction of the heteromeric KV7.3/5 channel is implicated in the pathogenesis of some forms of autism spectrum disorders, epilepsy, and possibly other psychiatric disorders and therefore, KCNQ3 and KCNQ5 are suggested as candidate genes for these disorders.

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Language(s): eng - English
 Dates: 2013-04-16
 Publication Status: Published online
 Pages: -
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 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.3389/fgene.2013.00054
ISSN: 1664-8021 (Electronic)1664-8021 (Print)
URI: http://www.ncbi.nlm.nih.gov/pubmed/23596459
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Title: Frontiers in Genetics
Source Genre: Journal
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Publ. Info: Lausanne : Frontiers Media S.A.
Pages: - Volume / Issue: 4 Sequence Number: - Start / End Page: 4:54 - 4:54 Identifier: -