Abstract
Mutations in LGI1 have been reported in several families with autosomal dominant lateral temporal epilepsy. In a family in which three patients also experienced migraine-like episodes we found a novel three base-pair deletion (c.377_379delACA), resulting in the deletion of an asparagine residue in the second leucine-rich repeat. Functional studies showed that the mutated protein was not secreted when transfected in COS cells, consistent with a causative role in the disease.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Aged
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Animals
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Asparagine / genetics
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COS Cells
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Chlorocebus aethiops
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Epilepsy, Temporal Lobe / complications*
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Epilepsy, Temporal Lobe / genetics*
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Family Health*
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Female
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Humans
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Intracellular Signaling Peptides and Proteins
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Male
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Middle Aged
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Migraine Disorders / complications*
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Migraine Disorders / genetics*
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Proteins / genetics*
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Sequence Deletion / genetics*
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Transfection / methods
Substances
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Intracellular Signaling Peptides and Proteins
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LGI1 protein, human
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Proteins
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Asparagine