
pmid: 18440780
handle: 11588/373707 , 20.500.14243/35398 , 20.500.14243/77498 , 11562/327090 , 11386/3098505 , 11573/230819 , 11567/314934 , 11585/66504
pmid: 18440780
handle: 11588/373707 , 20.500.14243/35398 , 20.500.14243/77498 , 11562/327090 , 11386/3098505 , 11573/230819 , 11567/314934 , 11585/66504
Mutations in the LGI1 gene are linked to autosomal dominant lateral temporal epilepsy (ADTLE) in about half of the families tested, suggesting that ADLTE is genetically heterogeneous. Recently, the Lgi1 protein has been found associated with different protein complexes and two distinct molecular mechanisms possibly underlying ADLTE have been hypothesized: the one recognizes Lgi1 as a novel subunit of the presynaptic Kv1 potassium channel implicated in the regulation of channel inactivation, the other suggests that Lgi1 acts as a ligand that selectively binds to the postsynaptic receptor ADAM22, thereby regulating the glutamate-AMPA neurotransmission. Both mechanisms imply that LGI1 mutations result in alteration of synaptic currents, though of different types. Since their protein products have been found associated with Lgi1, the Kv1 channel subunit genes KCNA1, KCNA4, and KCNAB1 and ADAM22 can be considered strong candidates for ADLTE. We sequenced their coding exons and flanking splice sites in the probands of 9 carefully ascertained ADLTE families negative for LGI1 mutations. We failed to detect any mutation segregating with the disease, but identified several previously unreported polymorphisms. An association study of four non-synonymous variants (three found in ADAM22, one in KCNA4) in a population of 104 non-familial lateral temporal epilepsy cases did not show any modification of susceptibility to this disorder. Altogether, our results suggest that neither ADAM22 nor any of the three Kv1 channel genes are major causative genes for ADLTE.
Male, DNA Mutational Analysis, Nerve Tissue Proteins, ADAM Proteins; genetics, DNA Mutational Analysis; methods, Epilepsy; Temporal Lobe; genetics, Family Health, Female, Genetic Testing; methods, Humans, Male, Middle Aged, Nerve Tissue Proteins; genetics, Polymorphism; Restriction Fragment Length, Proteins; genetics, Shaker Superfamily of Potassium Channels; genetics, adam22 receptor; association studies; autosomal dominant lateral temporal epilepsy; genetics; kv1 channel; lgi1, Genetics, Humans, Genetic Testing, Kv1 channel, Autosomal dominant lateral temporal epilepsy, Association studies, Family Health, ADAM22 receptor, Intracellular Signaling Peptides and Proteins, Proteins, Middle Aged, ADAM Proteins, Epilepsy, Temporal Lobe, Shaker Superfamily of Potassium Channels, LGI1, Female, Autosomal dominant lateral temporal epilepsy; Genetics; LGI1; Kv1 channel; ADAM22 receptor; Association studies, Polymorphism, Restriction Fragment Length
Male, DNA Mutational Analysis, Nerve Tissue Proteins, ADAM Proteins; genetics, DNA Mutational Analysis; methods, Epilepsy; Temporal Lobe; genetics, Family Health, Female, Genetic Testing; methods, Humans, Male, Middle Aged, Nerve Tissue Proteins; genetics, Polymorphism; Restriction Fragment Length, Proteins; genetics, Shaker Superfamily of Potassium Channels; genetics, adam22 receptor; association studies; autosomal dominant lateral temporal epilepsy; genetics; kv1 channel; lgi1, Genetics, Humans, Genetic Testing, Kv1 channel, Autosomal dominant lateral temporal epilepsy, Association studies, Family Health, ADAM22 receptor, Intracellular Signaling Peptides and Proteins, Proteins, Middle Aged, ADAM Proteins, Epilepsy, Temporal Lobe, Shaker Superfamily of Potassium Channels, LGI1, Female, Autosomal dominant lateral temporal epilepsy; Genetics; LGI1; Kv1 channel; ADAM22 receptor; Association studies, Polymorphism, Restriction Fragment Length
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