| Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region. | |
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MedLine Citation:
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PMID: 20384727 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Seizure disorders of the rolandic region comprise a spectrum of different epilepsy syndromes ranging from benign rolandic epilepsy to more severe seizure disorders including atypical benign partial epilepsy/pseudo-Lennox syndrome,electrical status epilepticus during sleep, and Landau-Kleffner syndrome. Centrotemporal spikes are the unifying electroencephalographic hallmark of these benign focal epilepsies, indicating a pathophysiologic relationship between the various epilepsies arising from the rolandic region. The etiology of these epilepsies is elusive, but a genetic component is assumed given the heritability of the characteristic electrographic trait. Herein we report on three patients with intellectual disability, various dysmorphic features, and epilepsies involving the rolandic region, carrying previously undescribed deletions in 16p13. The only gene located in the critical region shared by all three patients is GRIN2A coding for the alpha-2 subunit of the neuronal N-methyl-D-aspartate(NMDA) receptor. |
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Authors:
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Constanze Reutlinger; Ingo Helbig; Barbara Gawelczyk; Jose Ignacio Martin Subero; Holger Tönnies; Hiltrud Muhle; Katrin Finsterwalder; Sascha Vermeer; Rolph Pfundt; Jürgen Sperner; Irina Stefanova; Gabriele Gillessen-Kaesbach; Sarah von Spiczak; Andreas van Baalen; Rainer Boor; Reiner Siebert; Ulrich Stephani; Almuth Caliebe |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Epilepsia Volume: 51 ISSN: 1528-1167 ISO Abbreviation: Epilepsia Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-09-27 Completed Date: 2010-10-15 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 2983306R Medline TA: Epilepsia Country: United States |
Other Details:
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Languages: eng Pagination: 1870-3 Citation Subset: IM |
Affiliation:
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Northern German Epilepsy Center for Children and Adolescents, Raisdorf, Germany. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Adult Age of Onset Child Chromosomes, Human, Pair 16 / genetics* Electroencephalography / statistics & numerical data Epilepsies, Partial / genetics Epilepsy / genetics* Epilepsy, Rolandic / genetics* Humans Landau-Kleffner Syndrome / genetics Mental Retardation / genetics* Phenotype Receptors, Glutamate / genetics Receptors, N-Methyl-D-Aspartate / genetics Sequence Deletion / genetics* Status Epilepticus / genetics Syndrome |
| Chemical | |
Reg. No./Substance:
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0/N-methyl D-aspartate receptor subtype 2A; 0/Receptors, Glutamate; 0/Receptors, N-Methyl-D-Aspartate |
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