OMIM: 254780Inheritance: Autosomal recessive
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | EPM2A |
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| Dna Change: | c.721C>T |
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| Protein Change: | p.Arg241Stop |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Nonsense |
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| Location: | exon 4 |
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| Transcript: | NM_005670.3 |
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| Gene/Locus: | EPM2A |
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| Dna Change: | Ex2-56Kbdel |
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| Protein Change: | |
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| Mutation Type: | Deletion |
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| Mutation Effect: | |
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| Location: | |
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| Transcript: | NM_005670.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Palestine | NA | NA | 3 families | NA | Gomez-Abad C et al., 2007Gomez-Abad C, Afawi Z, Korczyn AD, Misk A, Shalev SA, Spiegel R, Lerman-Sagie T, Lev D, Kron KL, Gómez-Garre P, Serratosa JM, Berkovic SF, . Founder effect with variable age at onset in Arab families with Lafora disease and EPM2A mutation.. Epilepsia. 2007; 48(5):1011-4 |
References
Gómez-Garre P, Sanz Y, Rodríguez De Córdoba SR, Serratosa JM, Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.Eur. J. Hum. Genet.. 2000; 8(12):946-54
Gomez-Abad C, Afawi Z, Korczyn AD, Misk A, Shalev SA, Spiegel R, Lerman-Sagie T, Lev D, Kron KL, Gómez-Garre P, Serratosa JM, Berkovic SF, Founder effect with variable age at onset in Arab families with Lafora disease and EPM2A mutation.Epilepsia. 2007; 48(5):1011-4