No abstract available
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Child, Preschool
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DNA Mutational Analysis
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Epilepsies, Myoclonic / genetics*
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Female
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Frameshift Mutation*
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Gene Expression
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Humans
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Male
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NAV1.1 Voltage-Gated Sodium Channel
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Nerve Tissue Proteins / genetics*
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Sodium Channels / genetics*
Substances
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NAV1.1 Voltage-Gated Sodium Channel
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Nerve Tissue Proteins
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SCN1A protein, human
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Sodium Channels