Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.
Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. Hum Mol Genet. 2002 May 15; 11(11):1263-71.
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Adolescent
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Adolescent
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Adult
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Adult
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Blotting, Western
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Blotting, Western
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Child
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Child
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Child, Preschool
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Child, Preschool
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Epilepsies, Myoclonic
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Epilepsies, Myoclonic
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Genotype
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Genotype
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Haplotypes
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Haplotypes
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HeLa Cells
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HeLa Cells
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Humans
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Humans
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Intellectual Disability
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Intellectual Disability
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Lafora Disease
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Lafora Disease
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Mutation, Missense
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Mutation, Missense
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Pedigree
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Pedigree
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Phenotype
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Phenotype
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Protein Tyrosine Phosphatases
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Protein Tyrosine Phosphatases
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Protein Tyrosine Phosphatases, Non-Receptor
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Protein Tyrosine Phosphatases, Non-Receptor
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Sequence Analysis, DNA
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Sequence Analysis, DNA