Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/9292
Title: Causes of epilepsies: insights from discordant monozygous twins.
Authors: Briellmann, Regula S;Jackson, Graeme D;Torn-Broers, Y;Berkovic, Samuel F
Affiliation: Brain Research Institute and Department of Neurology, Austin and Repatriation Medical Center, Victoria, Australia.
Issue Date: 1-Jan-2001
Citation: Annals of Neurology; 49(1): 45-52
Abstract: Whereas some patients with epilepsy have known acquired or genetic causes, in many the cause is unknown. By analyzing monozygotic twins, discordant for epilepsy, subtle etiological factors may be detected. We analyzed 12 monozygotic, discordant twins for factors explaining discordancy. These factors were presence of major clinical risk factors, presence of possibly epileptogenic lesions on brain magnetic resonance imaging (MRI), and quantitative brain volume abnormalities. Major risk factors, with associated acquired lesions were found in 4 of 12 twins. An MRI lesion without a major risk factor was found in a further 4 of 12 twins. Two of these had unilateral malformations of cortical development, 1 had bilateral periventricular heterotopia, and 1 had focal atrophy. Significant twin-twin differences in MRI volumes without obvious MRI lesions or major risk factors were found in 2 of 12 twins. Both had larger volumes than their co-twins, and idiopathic generalized epilepsy. No clinical or MRI findings accounting for discordance for epilepsy were found in 2 of 12 twins. In 10 of 12 pairs a clinical or MR correlate of epilepsy was found; some of those were subtle and only apparent by twin-twin comparison. They may be due to occult acquired factors, such as prenatal insults, or to genetic abnormalities resulting from postfertilization genetic processes.
Internal ID Number: 11198296
URI: http://ahro.austin.org.au/austinjspui/handle/1/9292
URL: http://www.ncbi.nlm.nih.gov/pubmed/11198296
Type: Journal Article
Subjects: Adult
Brain.pathology
Epilepsy.etiology.genetics.pathology
Female
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Twins, Monozygotic.genetics
Appears in Collections:Journal articles

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