Interictal paroxysmal epileptic discharges during sleep in childhood: phenotypic variability in a family.
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.
Roubertie
Agathe
A
Service de Neuropédiatrie, Hôpital Saint Eloi, Montpellier, France.
Humbertclaude
Véronique
V
Rivier
François
F
Cheminal
Renée
R
Echenne
Bernard
B
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