PURPOSE: Epilepsy is a common disabling condition, with high heritability according to twin studies. Characterization of familial risks for common subtypes of epilepsy will advance the search for the heritable causes of these conditions and their underlying mechanisms. We aim at defining familial risks for siblings to be hospitalized because of epilepsy. METHODS: A nationwide ad hoc epilepsy database was constructed by linking the Multigeneration Register on 0- to 69-year-old siblings to the Hospital Discharge Register for data on epilepsies covering the years 1987-2001. Standardized risk ratios (SIRs) were calculated for affected sibling pairs by comparing them to those whose siblings had no epilepsy. RESULTS: Among a total of 26,799 hospitalized cases, 598 affected siblings were identified with a familial SIR of 2.35; the SIR was highest at ages 0-4 years (6.82). Infantile spasms showed the highest risk for any subtype (10.45), when a co-sibling was diagnosed with any epilepsy. When both siblings were diagnosed with a concordant (same) subtype of epilepsy, the SIRs were high, i.e. 8.43 for generalized idiopathic epilepsy, 2.56 for partial epilepsy, 24.72 for status epilepticus and 24.39 for other epilepsies. Generalized idiopathic epilepsy was also associated with grand mal (4.06) and other epilepsies (7.61). The numbers of cases were small but concordant diagnoses always showing higher SIRs compared with discordant diagnoses. CONCLUSIONS: Within the limits of the present sample size, our results suggest high familial aggregation for certain subtypes of epilepsy for which distinct genetic mechanisms may underlie.
PURPOSE:Epilepsy is a common disabling condition, with high heritability according to twin studies. Characterization of familial risks for common subtypes of epilepsy will advance the search for the heritable causes of these conditions and their underlying mechanisms. We aim at defining familial risks for siblings to be hospitalized because of epilepsy. METHODS: A nationwide ad hoc epilepsy database was constructed by linking the Multigeneration Register on 0- to 69-year-old siblings to the Hospital Discharge Register for data on epilepsies covering the years 1987-2001. Standardized risk ratios (SIRs) were calculated for affected sibling pairs by comparing them to those whose siblings had no epilepsy. RESULTS: Among a total of 26,799 hospitalized cases, 598 affected siblings were identified with a familial SIR of 2.35; the SIR was highest at ages 0-4 years (6.82). Infantile spasms showed the highest risk for any subtype (10.45), when a co-sibling was diagnosed with any epilepsy. When both siblings were diagnosed with a concordant (same) subtype of epilepsy, the SIRs were high, i.e. 8.43 for generalized idiopathic epilepsy, 2.56 for partial epilepsy, 24.72 for status epilepticus and 24.39 for other epilepsies. Generalized idiopathic epilepsy was also associated with grand mal (4.06) and other epilepsies (7.61). The numbers of cases were small but concordant diagnoses always showing higher SIRs compared with discordant diagnoses. CONCLUSIONS: Within the limits of the present sample size, our results suggest high familial aggregation for certain subtypes of epilepsy for which distinct genetic mechanisms may underlie.
Authors: Anna L Peljto; Christie Barker-Cummings; Vincent M Vasoli; Cynthia L Leibson; W Allen Hauser; Jeffrey R Buchhalter; Ruth Ottman Journal: Brain Date: 2014-01-26 Impact factor: 13.501
Authors: Dalia Kasperaviciūte; Claudia B Catarino; Erin L Heinzen; Chantal Depondt; Gianpiero L Cavalleri; Luis O Caboclo; Sarah K Tate; Jenny Jamnadas-Khoda; Krishna Chinthapalli; Lisa M S Clayton; Kevin V Shianna; Rodney A Radtke; Mohamad A Mikati; William B Gallentine; Aatif M Husain; Saud Alhusaini; David Leppert; Lefkos T Middleton; Rachel A Gibson; Michael R Johnson; Paul M Matthews; David Hosford; Kjell Heuser; Leslie Amos; Marcos Ortega; Dominik Zumsteg; Heinz-Gregor Wieser; Bernhard J Steinhoff; Günter Krämer; Jörg Hansen; Thomas Dorn; Anne-Mari Kantanen; Leif Gjerstad; Terhi Peuralinna; Dena G Hernandez; Kai J Eriksson; Reetta K Kälviäinen; Colin P Doherty; Nicholas W Wood; Massimo Pandolfo; John S Duncan; Josemir W Sander; Norman Delanty; David B Goldstein; Sanjay M Sisodiya Journal: Brain Date: 2010-06-03 Impact factor: 13.501
Authors: Bassel Abou-Khalil; Brian Alldredge; Jocelyn Bautista; Sam Berkovic; Judith Bluvstein; Alex Boro; Gregory Cascino; Damian Consalvo; Sabrina Cristofaro; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael Epstein; Robyn Fahlstrom; Miguel Fiol; Nathan Fountain; Kristen Fox; Jacqueline French; Catharine Freyer Karn; Daniel Friedman; Eric Geller; Tracy Glauser; Simon Glynn; Kevin Haas; Sheryl Haut; Jean Hayward; Sandra Helmers; Sucheta Joshi; Andres Kanner; Heidi Kirsch; Robert Knowlton; Eric Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel Lowenstein; Shannon McGuire; Paul Motika; Gerard Nesbitt; Edward Novotny; Ruth Ottman; Juliann Paolicchi; Jack Parent; Kristen Park; Annapurna Poduri; Neil Risch; Lynette Sadleir; Ingrid Scheffer; Renee Shellhaas; Elliott Sherr; Jerry J Shih; Shlomo Shinnar; Rani Singh; Joseph Sirven; Michael Smith; Joe Sullivan; Liu Lin Thio; Anu Venkat; Eileen Vining; Gretchen von Allmen; Judith Weisenberg; Peter Widdess-Walsh; Melodie Winawer Journal: Clin Trials Date: 2013-07-01 Impact factor: 2.486
Authors: Erin L Heinzen; Chantal Depondt; Gianpiero L Cavalleri; Elizabeth K Ruzzo; Nicole M Walley; Anna C Need; Dongliang Ge; Min He; Elizabeth T Cirulli; Qian Zhao; Kenneth D Cronin; Curtis E Gumbs; C Ryan Campbell; Linda K Hong; Jessica M Maia; Kevin V Shianna; Mark McCormack; Rodney A Radtke; Gerard D O'Conner; Mohamad A Mikati; William B Gallentine; Aatif M Husain; Saurabh R Sinha; Krishna Chinthapalli; Ram S Puranam; James O McNamara; Ruth Ottman; Sanjay M Sisodiya; Norman Delanty; David B Goldstein Journal: Am J Hum Genet Date: 2012-08-02 Impact factor: 11.025