Juvenile myoclonic epilepsy: an autosomal recessive disease

Annals of Neurology
Chrysostomos P Panayiotopoulos, T Obeid

Abstract

We undertook genetic study of patients with juvenile myoclonic epilepsy (JME) from 17 families. There was a mean of 8 children in each sibship. Siblings were affected in 8 sibships, and some families had more than 2 members affected by JME. Half-siblings and parental involvement were found in only 1 sibship each. The segregation ratio was 0.123 but increased to 0.18 with correction for age of onset. Parental consanguinity was found in 9 (45%) of the sibships. The evidence establishes an autosomal recessive mode of inheritance for JME.

References

Apr 1, 1989·Annals of Neurology·C P PanayiotopoulosG Waheed
May 1, 1988·Epilepsia·T Obeid, C P Panayiotopoulos
Mar 1, 1984·Neurology·A V Delgado-Escueta, F Enrile-Bacsal

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Citations

Jul 1, 1990·Annals of Neurology·D A GreenbergD Janz
Feb 1, 1996·Annals of Neurology·J M SerratosaR S Sparkes
Mar 14, 2007·Journal of Neurology·Woo Suk TaeSeung Bong Hong
Jan 30, 2008·Journal of Neurology·Woo Suk TaeSeung Bong Hong
Mar 1, 1996·Seizure : the Journal of the British Epilepsy Association·D L Hurst
Jan 15, 1999·Seizure : the Journal of the British Epilepsy Association·M AbduljabbarS Al-Rajeh
Oct 12, 2001·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·F PanzicaC A Tassinari
Oct 3, 2012·Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society·William B Gallentine, Mohamad A Mikati
Mar 1, 1994·Child: Care, Health and Development·N Gordon
Aug 1, 1995·Journal of Paediatrics and Child Health·N Buchanan
Jun 1, 1992·The Japanese Journal of Psychiatry and Neurology·N Senanayake
Jan 1, 1989·Epilepsia·A V Delgado-EscuetaP I Terasaki
Mar 1, 1994·Epilepsia·C P PanayiotopoulosA R Tahan
Jan 1, 1994·Epilepsia·A V Delgado-EscuetaR S Sparkes
Jan 1, 1994·Epilepsia·J V Murphy, F Dehkharghani
Aug 14, 1999·Epilepsia·J M Serratosa
Nov 24, 2005·Epilepsia·Mark Gardiner
Jul 12, 2008·Epilepsia·Lynette G SadleirKevin Farrell
Oct 1, 1993·Brain Pathology·M LeppertM Connolly
Jul 4, 1992·BMJ : British Medical Journal·P L Timmings, A Richens
Mar 1, 2012·Neurology Research International·Claire ThorntonHenrik Hagberg
May 21, 2014·Journal of Genetics·Rashmi PariharSubramaniam Ganesh
Mar 17, 2010·Epilepsy & Behavior : E&B·Jerzy P SzaflarskiMichael D Privitera
Apr 1, 1989·Annals of Neurology·C P PanayiotopoulosG Waheed
Nov 10, 2001·Seizure : the Journal of the British Epilepsy Association·S Al RajehA Ogunniyi
Feb 24, 2006·Seizure : the Journal of the British Epilepsy Association·S Sita JayalakshmiRupam Borgohain
Mar 21, 2013·Epilepsy & Behavior : E&B·Gerardo Maria de Araujo FilhoAndrea Parolin Jackowski
Sep 19, 2002·Seizure : the Journal of the British Epilepsy Association·M M Mehndiratta, P Aggarwal
Oct 1, 1994·Journal of Child Neurology·J R Buchhalter
Mar 27, 2002·Revue médicale de Bruxelles·M Pandolfo
Nov 20, 2002·American Journal of Medical Genetics·Dongsheng BaiAntonio V Delgado-Escueta
May 7, 2002·Nature Genetics·Patrick CossetteGuy A Rouleau
Sep 14, 2006·Korean Journal of Radiology : Official Journal of the Korean Radiological Society·Woo Suk TaeSun I Kim
Apr 26, 2003·Acta Neurologica Scandinavica·S JainA Narula
Mar 3, 1998·Acta Neurologica Scandinavica·S JainM C Maheshwari

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