The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Rosemary Burgess; Shuyu Wang; Amy McTague; Katja E Boysen; Xiaoling Yang; Qi Zeng; Kenneth A Myers; Anne Rochtus; Marina Trivisano; Deepak Gill; Lynette G Sadleir; Nicola Specchio; Renzo Guerrini; Carla Marini; Yue-Hua Zhang; Heather C Mefford; Manju A Kurian; Annapurna H Poduri; Ingrid E Scheffer

Journal article

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Rosemary Burgess, Shuyu Wang, Amy McTague, Katja E Boysen, Xiaoling Yang, Qi Zeng, Kenneth A Myers, Anne Rochtus, Marina Trivisano, Deepak Gill, Lynette G Sadleir, Nicola Specchio, Renzo Guerrini, Carla Marini, Yue-Hua Zhang, Heather C Mefford, Manju A Kurian, Annapurna H Poduri, Ingrid E Scheffer

Annals of Neurology | WILEY | Published : 2019

DOI: 10.1002/ana.25619

Abstract

OBJECTIVE: Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe developmental and epileptic encephalopathies. We delineate the genetic causes and genotype-phenotype correlations of a large EIMFS cohort. METHODS: Phenotypic and molecular data were analyzed on patients recruited through an international collaborative study. RESULTS: We ascertained 135 patients from 128 unrelated families. Ninety-three of 135 (69%) had causative variants (42/55 previously reported) across 23 genes, including 9 novel EIMFS genes: de novo dominant GABRA1, GABRB1, ATP1A3; X-linked CDKL5, PIGA; and recessive ITPA, AIMP1, KARS, WWOX. The most frequently implicated genes were KCNT1 (36/..

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