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
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Comment
MeSH terms
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Age of Onset
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Amino Acid Substitution / genetics
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Brain Diseases, Metabolic / enzymology*
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Brain Diseases, Metabolic / genetics*
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Brain Diseases, Metabolic / physiopathology
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Cerebral Cortex / pathology
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Cerebral Cortex / physiopathology
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Child, Preschool
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Cohort Studies
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DNA Mutational Analysis
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Developmental Disabilities / enzymology
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Developmental Disabilities / genetics
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Developmental Disabilities / physiopathology
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Disease Progression
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Epilepsy / enzymology*
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Epilepsy / genetics*
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Epilepsy / physiopathology
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Female
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Genetic Markers / genetics
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Genotype
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Humans
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Male
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Movement Disorders / enzymology
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Movement Disorders / genetics
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Movement Disorders / physiopathology
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Muscle Hypotonia / etiology
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Muscle Hypotonia / physiopathology
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Mutation / genetics
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Polymorphism, Single Nucleotide / genetics
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Protein Serine-Threonine Kinases / genetics*
Substances
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Genetic Markers
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Protein Serine-Threonine Kinases
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CDKL5 protein, human