Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/11105
Title: Familial Lennox-Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria.
Authors: Lawrence, Kate M;Mei, Davide;Newton, Mark R;Leventer, Richard J;Guerrini, Renzo;Berkovic, Samuel F
Affiliation: Epilepsy Research Centre, Austin Health and University of Melbourne, Melbourne, Australia.
Issue Date: 1-Sep-2010
Citation: Epilepsia; 51(9): 1902-5
Abstract: Lennox-Gastaut syndrome (LGS) has numerous causes,but only rarely has familial recurrence been observed. We studied a family in which three male members had severe epilepsy and intellectual disability. The proband had seizure onset at 7 years of age with atonic, myoclonic, atypical absence, and tonic seizures with slow spike-wave on electroencephalography (EEG). One living sibling had a similar clinical pattern. One deceased sibling was known to have had seizures with intellectual disability. Neuroimaging revealed anterior predominant pachygyria. DNA sequencing of the gene doublecortin (DCX) on the X chromosome revealed a novel missense mutation in the two living affected male siblings. The occurrence of three affected male family members with proven or suspected LGS in this family was puzzling and only solved by a combination of magnetic resonance (MR) and molecular genetics evaluations. This finding provided essential information for genetic counseling.
Internal ID Number: 20726879
URI: http://ahro.austin.org.au/austinjspui/handle/1/11105
DOI: 10.1111/j.1528-1167.2010.02694.x
URL: http://www.ncbi.nlm.nih.gov/pubmed/20726879
Type: Journal Article
Subjects: DNA Mutational Analysis
Diseases in Twins.genetics
Electroencephalography
Epilepsies, Myoclonic.diagnosis.genetics
Epilepsy.diagnosis.genetics
Epilepsy, Generalized.diagnosis
Family
Female
Humans
Lissencephaly.diagnosis.genetics
Male
Microtubule-Associated Proteins.genetics
Middle Aged
Mutation, Missense.genetics
Neuropeptides.genetics
Pedigree
Phosphoproteins.genetics
Receptors, G-Protein-Coupled.genetics
Siblings
Syndrome
Appears in Collections:Journal articles

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