Abstract
We report three children of the same parents who exhibited various types of cognitive disorders, ranging from severe mental deficiency with transient autistic-like regression to specific neuropsychological disabilities, associated with paroxysmal EEG abnormalities with various patterns of severity. This familial association highly suggests a genetic factor responsible for both epileptic discharges on EEG and cognitive dysfunction.
Publication types
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Case Reports
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Comparative Study
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Twin Study
MeSH terms
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Brain / physiopathology
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Child
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Child, Preschool
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Cognition Disorders / diagnosis
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Cognition Disorders / genetics*
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Cognition Disorders / physiopathology
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Developmental Disabilities / diagnosis
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Developmental Disabilities / genetics*
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Developmental Disabilities / physiopathology
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Diseases in Twins / genetics
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Electroencephalography / methods
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Electroencephalography / statistics & numerical data
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Epilepsy / diagnosis
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Epilepsy / genetics*
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Epilepsy / physiopathology
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Female
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Genetic Heterogeneity*
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Humans
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Infant
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Male
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Neuropsychological Tests
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Pedigree
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Phenotype*
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Severity of Illness Index
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Sleep Wake Disorders / diagnosis
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Sleep Wake Disorders / genetics*
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Sleep Wake Disorders / physiopathology