No abstract available
Publication types
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Case Reports
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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AMP Deaminase / deficiency*
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Adult
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Brugada Syndrome / complications
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Brugada Syndrome / genetics
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Disorders of Excessive Somnolence / complications*
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Disorders of Excessive Somnolence / genetics
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Disorders of Excessive Somnolence / physiopathology*
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Female
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Humans
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NAV1.5 Voltage-Gated Sodium Channel / genetics
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Polysomnography
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Pupil*
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Purine-Pyrimidine Metabolism, Inborn Errors / complications*
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Purine-Pyrimidine Metabolism, Inborn Errors / diagnosis*
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Reflex, Pupillary* / genetics
Substances
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NAV1.5 Voltage-Gated Sodium Channel
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SCN5A protein, human
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AMP Deaminase
Supplementary concepts
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Adenosine monophosphate deaminase deficiency