5 OF 7 EPI4K: MULTIPLEX FAMILIES & PAIRS PROJECT

Generalized, focal, and combined epilepsies in families: New evidence for distinct genetic factors

Colin A Ellis, Ruth Ottman, Michael P Epstein, Samuel F Berkovic

2020-12-01

Objective To determine the roles of shared and distinct genetic influences on generalized and focal epilepsy operating in individu..

The "maternal effect" on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence

Colin A Ellis, Samuel F Berkovic, Michael P Epstein, Ruth Ottman

2019-11-18

OBJECTIVE: Previous studies have observed that epilepsy risk is higher among offspring of affected women than offspring of affecte..

Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies

Bassel Abou-Khalil, Zaid Afawi, Andrew S Allen, Jocelyn F Bautista, Susannah T Bellows, Samuel F Berkovic, Judith Bluvstein, Rosemary Burgess, Gregory Cascino, Patrick Cossette, Sabrina Cristofaro, Douglas E Crompton, Norman Delanty, Orrin Devinsky, Dennis Dlugos, Colin A Ellis, Michael P Epstein, Nathan B Fountain, Catharine Freyer, Eric B Geller

2019-11-01

OBJECTIVE: Classification of epilepsy into types and subtypes is important for both clinical care and research into underlying dis..

Epilepsy in families: Age at onset is a familial trait, independent of syndrome

Colin A Ellis, Leonid Churilov, Michael P Epstein, Sharon X Xie, Susannah T Bellows, Ruth Ottman, Samuel F Berkovic

2019-07-01

OBJECTIVE: We tested 2 hypotheses regarding age at onset within familial epilepsies: (1) family members with epilepsy tend to have..

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

Xiaolin Zhu, Raghavendra Padmanabhan, Brett Copeland, Joshua Bridgers, Zhong Ren, Sitharthan Kamalakaran, Ailbhe O'Driscoll-Collins, Samuel F Berkovic, Ingrid E Scheffer, Annapurna Poduri, Davide Mei, Renzo Guerrini, Daniel H Lowenstein, Andrew S Allen, Erin L Heinzen, David B Goldstein

2017-11-01

Trio exome sequencing has been successful in identifying genes with de novo mutations (DNMs) causing epileptic encephalopathy (EE)..

Annotating pathogenic non-coding variants in genic regions

Sahar Gelfman, Quanli Wang, K Melodi McSweeney, Zhong Ren, Francesca La Carpia, Matt Halvorsen, Kelly Schoch, Fanni Ratzon, Erin L Heinzen, Michael J Boland, Slave Petrovski, David B Goldstein

2017-08-09

Identifying the underlying causes of disease requires accurate interpretation of genetic variants. Current methods ineffectively c..

Phenotypic analysis of 303 multiplex families with common epilepsies

Bassel Abou-Khalil, Zaid Afawi, Andrew S Allen, Jocelyn F Bautista, Susannah T Bellows, Samuel F Berkovic, Judith Bluvstein, Rosemary Burgess, Gregory Cascino, Elisa J Cops, Patrick Cossette, Sabrina Cristofaro, Douglas E Crompton, Norman Delanty, Orrin Devinsky, Dennis Dlugos, Michael P Epstein, Nathan B Fountain, Catharine Freyer, Sarah I Garry

2017-08-01

Gene identification in epilepsy has mainly been limited to large families segregating genes of major effect and de novo mutations ..

Epi4K: Gene discovery in 4,000 genomes

Sam Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan Eichler, Michael Epstein, Tracy Glauser, David Goldstein, Erin Heinzen, Michael R Johnson, Ruben Kuzniecky, Daniel Lowenstein, Tony Marson, Heather Mefford, Terence O'Brien, Ruth Ottman, Ann Poduri, Ingrid Scheffer, Elliott Sherr, Kevin Shianna

2012-08-01

A major challenge in epilepsy research is to unravel the complex genetic mechanisms underlying both common and rare forms of epile..