Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.

doi:10.1111/epi.16508

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Article

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.

Epilepsia - 1 May 2020

Tang Shan, Addis Laura, Smith Anna, Topp Simon D, Pendziwiat Manuela, Mei Davide, Parker Alasdair, Agrawal Shakti, Hughes Elaine, Lascelles Karine, Williams Ruth E, Fallon Penny, Robinson Robert, Cross Helen J, Hedderly Tammy, Eltze Christin, Kerr Tim, Desurkar Archana, Hussain Nahin, Kinali Maria, Bagnasco Irene, Vassallo Grace, Whitehouse William, Goyal Sushma, Absoud Michael, Møller Rikke S, Helbig Ingo, Weber Yvonne G, Marini Carla, Guerrini Renzo, Simpson Michael A, Pal Deb K

Abstract excerpt

OBJECTIVE: We aimed to describe the extent of neurodevelopmental impairments and identify the genetic etiologies in a large cohort of patients with epilepsy with myoclonic atonic seizures (MAE). METHODS: We deeply phenotyped MAE patients for epilepsy features, intellectual disability, autism spectrum disorder, and attention-deficit/hyperactivity disorder using standardized neuropsychological instruments. We...

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PMID: 32469098
DOI: 10.1111/epi.16508

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