Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy.

Epilepsy Research
Peter KinironsPatrick Cossette

Abstract

A crucial issue in the genetic analysis of idiopathic generalized epilepsy (IGE) is deciding on the phenotypes that are likely to give the greatest power to detect predisposing variants. A complex inheritance pattern and unclear nature of the genotype-phenotype correlation makes this task difficult. In the absence of much definitive genetic information to clarify this correlation, we inferred the putative effects of predisposing genes by studying the clustering of various phenotypic features, both clinical and electrophysiological, within families. We examined the distribution of clinical features among relatives of a proband in 70 French-Canadian families with a minimum of two affected individuals with a clear diagnosis of IGE and then, using concordance analysis, identified the relative genetic influences on IGE syndrome, seizure type, age-at-onset, and EEG features. The mean number of affected individuals with IGE per family was three. One-third of relatives had the same syndrome as the proband. 16-22.5% of relatives of a proband with one of the absence syndromes had juvenile myoclonic epilepsy (JME). Conversely, 27% of relatives of probands with JME had an absence syndrome. 15% of relatives displayed the exact constellation...Continue Reading

References

Sep 1, 1988·American Journal of Medical Genetics·D A GreenbergP I Terasaki
Jul 1, 1995·Human Molecular Genetics·F ZaraM Pandolfo
Jun 14, 1996·American Journal of Medical Genetics·A W LiuR S Sparkes
Feb 1, 1996·Annals of Neurology·J M SerratosaR S Sparkes
Apr 18, 1998·Annals of Neurology·S F BerkovicJ L Hopper
Jul 11, 2000·Human Molecular Genetics·T SanderA Reis
May 7, 2002·Nature Genetics·Patrick CossetteGuy A Rouleau
Jul 12, 2002·Statistics in Medicine·Melodie WinawerDaniel Rabinowitz
Jul 16, 2002·Archives of Neurology·Colette KananuraOrtrud K Steinlein
Jan 18, 2003·Journal of Neurology, Neurosurgery, and Psychiatry·C MariniS F Berkovic
Jun 28, 2003·American Journal of Human Genetics·Deb K PalDavid A Greenberg
Aug 23, 2003·Biostatistics·Daniel Rabinowitz, Rebecca A Betensky
Sep 2, 2003·Epilepsy Research·Marianne Juel KjeldsenMogens Laue Friis
Sep 25, 2003·Neurogenetics·Wenli GuOrtrud K Steinlein
Dec 10, 2003·Neurology·M R WinawerR Ottman
Mar 30, 2004·Annals of Neurology·Sarah E HeronIngrid E Scheffer
Jul 20, 2004·Nature Genetics·Toshimitsu SuzukiKazuhiro Yamakawa
Sep 2, 2004·Cold Spring Harbor Symposia on Quantitative Biology·D B GoldsteinK R Ahmadi
Feb 24, 2006·Seizure : the Journal of the British Epilepsy Association·S Sita JayalakshmiRupam Borgohain
Feb 28, 2006·Epilepsia·Chow Huat Patrick ChanGraeme D Jackson
Apr 18, 2007·Epilepsia·Gianpiero L CavalleriSanjay M Sisodiya
Feb 5, 2008·American Journal of Medical Genetics. Part a·Peter KinironsPatrick Cossette

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Citations

Jun 17, 2010·Epilepsia·Pamela Lachance-TouchettePatrick Cossette
May 31, 2012·Epilepsia·UNKNOWN Epi4K Consortium
Jun 17, 2014·Expert Review of Neurotherapeutics·Matthias J KoeppDieter Schmidt
Feb 18, 2014·Pediatric Neurology·Sara MatricardiPaolo Curatolo
Aug 12, 2014·Seizure : the Journal of the British Epilepsy Association·Emilija CvetkovskaIgor Kuzmanovski
Jul 1, 2011·The European Journal of Neuroscience·Pamela Lachance-TouchettePatrick Cossette
Oct 23, 2012·Epilepsy & Behavior : E&B·Rhys H ThomasMichael P Kerr
Jun 2, 2017·Neurology·Steven TobochnikUNKNOWN EPGP Investigators
Mar 10, 2011·Language, Speech, and Hearing Services in Schools·Juliann J WoodsTrudi Murch
Jul 12, 2018·Clinical Genetics·K A MyersD A Dyment
May 3, 2019·Annals of Neurology·Colin A EllisUNKNOWN Epi4K Consortium

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