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  Absent CNKSR2 causes seizures and intellectual, attention, and language deficits

Vaags, A. K., Bowdin, S., Smith, M. L., Gilbert-Dussardier, B., Brocke-Holmefjord, K. S., Sinopoli, K., et al. (2014). Absent CNKSR2 causes seizures and intellectual, attention, and language deficits. Annals of Neurology, 76(5), 758-764. doi:10.1002/ana.24274.

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Vaags.pdf (Publisher version), 369KB
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© 2014 American Neurological Association
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Vaags, A. K., Author
Bowdin, S., Author
Smith, M. L., Author
Gilbert-Dussardier, B., Author
Brocke-Holmefjord, K. S., Author
Sinopoli, K., Author
Gilles, C., Author
Haaland, T. B., Author
Vincent-Delorme, C., Author
Lagrue, E., Author
Harbuz, R., Author
Walker, S., Author
Marshall, C. R., Author
Houge, G., Author
Kalscheuer, V. M.1, Author           
Scherer, S. W., Author
Minassian, B. A., Author
Affiliations:
1Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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Free keywords: Adaptor Proteins, Signal Transducing/genetics/*metabolism Adolescent Adult Age of Onset Attention Deficit Disorder with Hyperactivity/genetics/*metabolism/psychology Child Electroencephalography Female Heterozygote Humans Intellectual Disability/genetics/*metabolism/psychology Language Disorders/genetics/*metabolism/psychology Male Middle Aged Neuropsychological Tests Pedigree Seizures/genetics/*metabolism
 Abstract: Synaptic function is central to brain function. Understanding the synapse is aided by studies of patients lacking individual synaptic proteins. Common neurological diseases are genetically complex. Their understanding is likewise simplified by studies of less common monogenic forms. We detail the disease caused by absence of the synaptic protein CNKSR2 in 8 patients ranging from 6 to 62 years old. The disease is characterized by intellectual disability, attention problems, and abrupt lifelong language loss following a brief early childhood epilepsy with continuous spike-waves in sleep. This study describes the phenotype of CNKSR2 deficiency and its involvement in systems underlying common neurological disorders.

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Language(s): eng - English
 Dates: 2014-10-042014-11
 Publication Status: Issued
 Pages: -
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 Rev. Type: Peer
 Identifiers: DOI: 10.1002/ana.24274
ISSN: 1531-8249 (Electronic)0364-5134 (Print)
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Title: Annals of Neurology
Source Genre: Journal
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Publ. Info: Boston : American Neurological Association
Pages: - Volume / Issue: 76 (5) Sequence Number: - Start / End Page: 758 - 764 Identifier: ISSN: 0364-5134
CoNE: https://pure.mpg.de/cone/journals/resource/954925523748