AI Article Synopsis
- Evidence supports a genetic link to certain types of epilepsies, with the AP3M2 gene seen as a potential contributor due to its role in epileptic seizure symptoms in knockout mice.
- Researchers analyzed the genomic DNA of 190 epilepsy patients, screening all exons and relevant boundaries of AP3M2, but found no missense or nonsense mutations.
- They identified 21 sequence variations, mostly in UTRs and introns, suggesting that while no specific AP3M2 mutations were pinpointed for epilepsy, some variations could be linked to other disorders related to GABAergic transmission issues.
Article Abstract
Evidence that some types of epilepsies show strong genetic predisposition has been well documented. AP3M2 is considered to be an epileptogenic gene because AP3M2 knockout mice exhibit symptoms of spontaneous epileptic seizures. In order to investigate whether the AP3M2 gene causes susceptibility to epilepsy, we performed mutation screening of the genomic DNA of 190 patients with six epilepsy types; this screening involved all the 9 exons and the relevant exon-intron boundaries of AP3M2. Although neither missense nor nonsense mutations were detected, we identified 21 sequence variations, of which 16 variations were novel. Of the 21 variations, 11 were detected in 5' and 3' UTRs, while the remaining variations were detected in introns. Although the present study failed to identify the possible AP3M2 mutations that may cause epilepsy, our results suggest that some AP3M2 mutations still remain candidates for unmapped disorders including epilepsy, febrile seizure, and other neuronal developmental disorders associated with functional abnormalities of GABAergic transmission.
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| http://dx.doi.org/10.1016/j.braindev.2006.12.004 | DOI Listing |
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