The DOI matches its Crossref record; 38 of the 38 references it cites were found in a registry or an index.
SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome
Open accessAbstract
Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman syndrome, identified a deletion in the SLC9A6 gene encoding the Na(+)/H(+) exchanger NHE6. Subsequently, other mutations were found in a male with mental retardation (MR) who had been investigated for Angelman syndrome and in two XLMR families with epilepsy and ataxia, including the family designated as having Christianson syndrome. Therefore, mutations in SLC9A6 cause X-linked mental retardation. Additionally, males with findings suggestive of unexplained Angelman syndrome should be considered as potential candidates for SLC9A6 mutations.
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“This gene encodes sodium/hydrogen exchanger protein 6, which is part of a network related to the plasticity of glutaminergic neurons [86].”
From Self-domestication in Homo sapiens: Insights from comparative genomics (2017) · cites this paper as [86]
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Metadata
- Authors
- Gilfillan, G. D., Selmer, K. K., Roxrud, I., Smith, R., Kyllerman, M., Eiklid, K., Kroken, M., Mattingsdal, M., Egeland, T., Stenmark, H., Sjøholm, H., Server, A., Samuelsson, L., Christianson, A., Tarpey, P., Whibley, A., Stratton, M. R., Futreal, P. A., Teague, J., Edkins, S., Gecz, J., Turner, G., Raymond, F. L., Schwartz, C., Stevenson, R. E., Undlien, D. E., & Strømme, P.
- Affiliations
- Oslo University Hospital (NO)
- Wellcome Sanger Institute (GB)
- University of Gothenburg (SE)
- Sahlgrenska University Hospital (SE)
- National Health Laboratory Service (ZA)
- University of Cambridge (GB)
- Hunter Genetics (AU)
- Greenwood Genetic Center (US)
- Corresponding author
- Strømme, Petter
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2008-04
- Volume
- 82
- Issue
- 4
- Pages
- 1003-1010
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC2427207
- OpenAlex
- W2017173296
- Cited by
- 232
- References
- 38
- Citations by year
- 2026: 6 · 2025: 10 · 2024: 10 · 2023: 9 · 2022: 8 · 2021: 14 · 2020: 9 · 2019: 11 · 2018: 12 · 2017: 14 · 2016: 21 · 2015: 13 · 2014: 14 · 2013: 20 · 2012: 14
- FWCI
- 8.74
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
- NOVA (University of Newcastle Australia) (submittedVersion)
- Funders
- Wellcome Trust
- National Institute of Neurological Disorders and Stroke (NS-31564, R01NS031564)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD2606)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- SLC9A6, NHE6, X-linked intellectual disability, Angelman syndrome, Christianson syndrome, microcephaly, epilepsy, ataxia, Na+/H+ exchanger, gene deletion, X-linked inheritance, differential diagnosis
- MeSH terms
- Adult, Ataxia, Child, Child, Preschool, DNA Mutational Analysis, Electroencephalography, Epilepsy, Humans, Magnetic Resonance Imaging, Male, Membrane Proteins, Microcephaly, Mutation, Pedigree, Phenotype, Syndrome, Angelman Syndrome, Sodium-Hydrogen Exchangers, X-Linked Intellectual Disability
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