Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy |
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Authors: | Nabbout R Kozlovski A Gennaro E Bahi-Buisson N Zara F Chiron C Bianchi A Brice A Leguern E Dulac O |
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Institution: | Département de Neuropédiatrie, H?pital Saint Vincent-de-Paul, AP-HP, 82 Avenue Denfert Rochereau, 75014 Paris, France. rimanabbout@yahoo.com |
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Abstract: | Myoclonic astatic epilepsy (MAE) is a genetically determined condition of childhood onset characterized by multiple generalized types of seizures including myoclonic astatic seizures, generalized spike waves and cognitive deterioration. This condition has been reported in a few patients in generalized epilepsy with febrile seizures plus (GEFS+) families and MAE has been considered, like severe myoclonic epilepsy of infancy (SMEI), to be a severe phenotype within the GEFS+ spectrum. Four genes have been identified in GEFS+ families, but only three (SCN1A, SCNlB, GABRG2) were found in MAE patients within GEFS+ families. We analysed these three genes in a series of 22 sporadic patients with MAE and found no causal mutations. These findings suggest that MAE, unlike SMEI, is not genetically related to GEFS+. Although MAE and SMEI share the same types of seizures, only SMEI patients are sensitive to fever. This is probably its main link to GEFS+. A different family of genes is likely to account for MAE. |
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