Article
Founder effect with variable age at onset in Arab families with Lafora disease and EPM2A mutation.
Epilepsia - 1 May 2007
Gomez-Abad Cristina, Afawi Zaid, Korczyn Amos D, Misk Adel, Shalev Stavit A, Spiegel Ronen, Lerman-Sagie Tally, Lev Dorit, Kron Katherine L, Gómez-Garre Pilar, Serratosa Jose M, Berkovic Samuel F
Abstract excerpt
PURPOSE: We observed three apparently unrelated and geographically separate Arab families with Lafora disease in Israel and the Palestinian territories. METHODS: We clinically evaluated the families and analyzed their DNA for EPM2A mutations. RESULTS: Of seven individuals with Lafora disease, the clinical onset varied from 13 to 20 years. All three families shared the same novel homozygous deletion in EPM2A....
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