No abstract available
Publication types
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Adaptor Proteins, Vesicular Transport / genetics*
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Adaptor Proteins, Vesicular Transport / metabolism
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Epilepsy / genetics*
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Epilepsy / physiopathology*
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Female
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Genetic Diseases, X-Linked / genetics*
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Genetic Diseases, X-Linked / physiopathology*
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Humans
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Hyperekplexia / genetics
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Male
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Mutation
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Pedigree
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Phenotype
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Reflex, Abnormal / genetics*
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Status Epilepticus / genetics
Substances
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Adaptor Proteins, Vesicular Transport
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TRAK1 protein, human
Supplementary concepts
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Hyperekplexia and Epilepsy