Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q

Epilepsy Research
Robert RobinsonR M Gardiner

Abstract

Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by onset of typical absence seizures in otherwise normal children of school age. A genetic component to aetiology is well established but the mechanism of inheritance and the genes involved are unknown. Available evidence suggests that mutations in genes encoding GABA receptors or brain expressed voltage-dependent calcium channels (VDCCs) may underlie CAE. The aim of this work was to test this hypothesis by linkage analysis using microsatellite loci spanning theses genes in 33 nuclear families each with two or more individuals with CAE. Seventeen VDCC subunit genes, ten GABA(A)R subunit genes, two GABA(B) receptor genes and the ECA1 locus on 8q24 were investigated using 35 microsatellite loci. Assuming locus homogeneity, all loci gave statistically significant negative LOD scores, excluding these genes as major loci in the majority of these families. Positive HLOD scores assuming locus heterogeneity were observed for CACNG3 on chromosome 16p12-p13.1 and the GABRA5, GABRB3, GABRG3 cluster on chromosome 15q11-q13. Association studies are required to determine whether these loci are the site of susceptibility alleles in a subset of patients ...Continue Reading

References

Jun 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·J Ott
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Jun 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·G M LathropJ Ott
Mar 25, 1998·Journal of Child Neurology·S BuoniA Fois
Apr 17, 1998·Brain & Development·Y Futatsugi, J J Riviello
Apr 18, 1998·Annals of Neurology·S F BerkovicJ L Hopper
May 29, 2000·American Journal of Human Genetics·E R MartinN L Kaplan
Feb 22, 2001·Annual Review of Physiology·D A McCormick, D Contreras
Jun 8, 2001·Paediatric Drugs·C P Panayiotopoulos
Sep 22, 2001·Science·A H BurghesA de La Chapelle

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Citations

Oct 27, 2004·Journal of Neurology·Eugen TrinkaGerhard Bauer
Apr 18, 2008·The Cerebellum·S Hossein FatemiRobert W Sidwell
Jul 10, 2003·Current Opinion in Neurobiology·Jyothi Arikkath, Kevin P Campbell
Feb 1, 2007·European Journal of Human Genetics : EJHG·Kate V EverettMark Gardiner
Oct 3, 2012·Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society·William B Gallentine, Mohamad A Mikati
Nov 24, 2005·Epilepsia·Mark Gardiner
Jan 28, 2016·Neuroscience and Biobehavioral Reviews·Chelcie F Heaney, Jefferson W Kinney
Dec 23, 2009·Brain Research Reviews·Marco WeiergräberRüdiger Köhling
Aug 15, 2006·Neuroscience Letters·Jianmin LiangXiru Wu
Aug 24, 2016·Scientific Reports·Thomas Hellesøe HolmKarin Lykke-Hartmann
Jun 15, 2007·Expert Review of Neurotherapeutics·Danielle M Andrade, Berge A Minassian
Nov 5, 2003·American Journal of Medical Genetics. Part a·Jianjun LuKeming Xu
Jul 23, 2004·Physiological Reviews·Bernhard BettlerMartin Gassmann
Aug 30, 2003·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Elaine C Wirrell

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Absence Epilepsy

Absence epilepsy is a common seizure disorder in children which can produce chronic psychosocial sequelae. Discover the latest research on absence epilepsies here.