title: Interictal paroxysmal epileptic discharges during sleep in childhood: phenotypic variability in a family.
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.
authors.affiliation: Service de Neuropédiatrie, Hôpital Saint Eloi, Montpellier, France.
authors.forename: Agathe
authors.initials: A
authors.lastname: Roubertie
authors.forename: Véronique
authors.initials: V
authors.lastname: Humbertclaude
authors.forename: François
authors.initials: F
authors.lastname: Rivier
authors.forename: Renée
authors.initials: R
authors.lastname: Cheminal
authors.forename: Bernard
authors.initials: B
authors.lastname: Echenne
mesh_terms: D001921:Brain / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D004200:Diseases in Twins / Q000235:genetics; D004569:Electroencephalography / Q000379:methods / Q000706:statistics & numerical data; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D007223:Infant; D008297:Male; D009483:Neuropsychological Tests; D010375:Pedigree; D010641:Phenotype; D012720:Severity of Illness Index; D012893:Sleep Wake Disorders / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology