No abstract available
Keywords:
Epilepsy; Epileptic encephalopathy; HECW2; Whole exome sequencing.
MeSH terms
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Brain / diagnostic imaging
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Brain / physiopathology
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Child, Preschool
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Developmental Disabilities / diagnostic imaging
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Developmental Disabilities / genetics*
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Developmental Disabilities / physiopathology
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Diagnosis, Differential
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Epilepsy / diagnostic imaging
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Epilepsy / genetics*
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Epilepsy / physiopathology
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Humans
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Intellectual Disability / diagnostic imaging
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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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Ubiquitin-Protein Ligases / genetics*
Substances
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HECW2 protein, human
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Ubiquitin-Protein Ligases