Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/11412
Title: Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes.
Authors: Vears, Danya F;Tsai, Meng-Han;Sadleir, Lynette G;Grinton, Bronwyn E;Lillywhite, Leasha M;Carney, Patrick W;Harvey, A Simon;Berkovic, Samuel F;Scheffer, Ingrid E
Affiliation: Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Issue Date: 5-Jan-2012
Citation: Epilepsia 2012; 53(2): 319-24
Abstract: To accurately determine the frequency and nature of the family history of seizures in patients with benign childhood epilepsy with centrotemporal spikes (BECTS).Participants with BECTS were recruited from the electroencephalography (EEG) laboratories of three pediatric centers and by referral. Pedigrees were constructed for up to three degrees of relatedness for each proband. All available affected and unaffected individuals underwent phenotyping using a validated seizure questionnaire. The proportion of affected relatives according to degree of relatedness was calculated and phenotypic patterns were analyzed.Fifty-three probands with BECTS had a mean age of seizure onset at 7.8 years (range 2-12 years). Thirty-four (64%) of 53 patients were male. For 51 participants, pedigrees were available for three degrees of relatedness. Fifty-seven (2.7%) of 2,085 relatives had a history of seizures: Twenty-one (9.8%) of 214 first-degree, 15 (3%) of 494 second-degree, and 21 (1.5%) of 1,377 third-degree relatives. Febrile seizures were the most frequent phenotype, occurring in 26 of 57 affected relatives. There were 34 relatives with epilepsy: 6.5% (14 of 214) first-degree, 1.8% (9 of 494) second-degree, and 0.8% (11 of 1,377) third-degree relatives. Of 21 affected first-degree relatives: 8 of 21 had febrile seizures (FS), 4 had BECTS, 2 had epilepsy-aphasia spectrum disorder, one had temporal lobe epilepsy with hippocampal sclerosis, 2 had focal epilepsy of unknown cause, 2 had genetic generalized epilepsies, and 3 had miscellaneous.The frequency of epilepsies in relatives and the heterogeneous syndromes observed suggest that BECTS has a genetic component consistent with complex inheritance. Focal epilepsies are the most common seizure disorder observed in relatives, especially BECTS and epilepsy-aphasia spectrum disorder. Additional acquired or environmental factors are likely to be necessary for expression of the seizure disorder.
Internal ID Number: 22220564
URI: http://ahro.austin.org.au/austinjspui/handle/1/11412
DOI: 10.1111/j.1528-1167.2011.03368.x
URL: http://www.ncbi.nlm.nih.gov/pubmed/22220564
Type: Journal Article
Subjects: Age of Onset
Child
Child, Preschool
Electroencephalography
Epilepsy, Rolandic.genetics
Female
Genetic Predisposition to Disease
Humans
Male
Pedigree
Appears in Collections:Journal articles

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