| Autor: |
Daniel Bertrand, Frances Elmslie, Elaine Hughes, John Trounce, Thomas Sander, Sonia Bertrand, Ortrud K. Steinlein |
| Jazyk: |
angličtina |
| Rok vydání: |
2005 |
| Předmět: |
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| Zdroj: |
Neurobiology of Disease, Vol 20, Iss 3, Pp 799-804 (2005) |
| Druh dokumentu: |
article |
| ISSN: |
1095-953X |
| DOI: |
10.1016/j.nbd.2005.05.013 |
| Popis: |
Mutations in nAChRs are found in a rare form of nocturnal frontal lobe epilepsy (ADNFLE). Previously, some nAChR mutations have been described that are associated with additional neurological features such as psychiatric disorders or cognitive defects. Here, we report a new CHRNB2 mutation located in transmembrane region 3 (M3), outside the known ADNFLE mutation cluster. The CHRNB2 mutation I312M, which occurred de novo in twins, markedly increases the receptor's sensitivity to acetylcholine. Phenotypically, the mutation is associated not only with typical ADNFLE, but also with distinct deficits in memory. The cognitive problems are most obvious in tasks requiring the organization and storage of verbal information. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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