Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/9532
Title: Epilepsy in offspring of whom both parents have idiopathic generalized epilepsy: biparental inheritance.
Authors: Marini, Carla;Harvey, A Simon;Pelekanos, James T;Berkovic, Samuel F
Affiliation: Epilepsy Research Institute, Department of Medicine (Neurology) Austin and Repatriation Medical Centre, The University of Melbourne Department of Neurology, Royal Children's Hospital, Melbourne, Australia.
Issue Date: 1-Sep-2003
Citation: Epilepsia; 44(9): 1250-4
Abstract: Little is known about offspring of parents who both have idiopathic generalized epilepsy (IGE). This is of importance for understanding the complex genetic architecture of IGE.Families in whom both parents had proven IGE were ascertained through a multiplex families database. Clinical information including EEG recordings and detailed pedigrees was obtained.In family I, the mother had juvenile myoclonic epilepsy (JME), and the father had IGE. One daughter had Lennox-Gastaut syndrome, and the other had unclassified epilepsy. In family II, the mother had JME, and the father had IGE. Two of three sons had an identical clinical picture of clinical picture of childhood absence epilepsy (CAE), but with fast polyspike-wave discharges on EEG.The clinical phenotype of affected offspring suggested that their epilepsy could be due to the combination of a putative "double dose" of genes from both sides of the family. In such families, as epilepsy genes could be inherited from both parents, a high risk of epilepsy in the offspring could be expected.
Internal ID Number: 12919400
URI: http://ahro.austin.org.au/austinjspui/handle/1/9532
URL: http://www.ncbi.nlm.nih.gov/pubmed/12919400
Type: Journal Article
Subjects: Adult
Child
Child, Preschool
Electroencephalography.methods
Epilepsy, Generalized.genetics.physiopathology
Female
Humans
Male
Pedigree
Appears in Collections:Journal articles

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