No abstract available
Publication types
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Case Reports
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Video-Audio Media
MeSH terms
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Adult
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Brain / diagnostic imaging
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Cerebellar Ataxia / diagnostic imaging
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Cerebellar Ataxia / drug therapy
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Cerebellar Ataxia / genetics
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Cerebellar Ataxia / physiopathology
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Epilepsy, Temporal Lobe / diagnostic imaging
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Epilepsy, Temporal Lobe / drug therapy
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Epilepsy, Temporal Lobe / genetics*
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Epilepsy, Temporal Lobe / physiopathology
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Female
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Humans
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Intellectual Disability / diagnostic imaging
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Intellectual Disability / drug therapy
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Intellectual Disability / genetics
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Intellectual Disability / physiopathology
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Male
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Mutation*
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Nerve Tissue Proteins / genetics*
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Phenotype
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Potassium Channels / genetics*
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Potassium Channels, Sodium-Activated
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Siblings
Substances
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KCNT1 protein, human
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Nerve Tissue Proteins
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Potassium Channels
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Potassium Channels, Sodium-Activated