Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures,Epilepsia

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Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures
Epilepsia ( IF 5.6 ) Pub Date : 2020-05-01 , DOI: 10.1111/epi.16508
Shan Tang _{1,

2} , Laura Addis _{2,

3} , Anna Smith ₂ , Simon D Topp ₂ , Manuela Pendziwiat ₄ , Davide Mei ₅ , Alasdair Parker ₆ , Shakti Agrawal ₇ , Elaine Hughes _{1,

8} , Karine Lascelles ₁ , Ruth E Williams ₁ , Penny Fallon ₉ , Robert Robinson ₁₀ , Helen J Cross _{10,

11} , Tammy Hedderly ₁ , Christin Eltze ₁₀ , Tim Kerr ₉ , Archana Desurkar ₁₂ , Nahin Hussain ₁₃ , Maria Kinali ₁₄ , Irene Bagnasco ₁₅ , Grace Vassallo ₁₆ , William Whitehouse ₁₇ , Sushma Goyal _{1,

8} , Michael Absoud ₁ , , Rikke S Møller ₁₈ , Ingo Helbig _{4,

19,

20,

21,

22} , Yvonne G Weber _{23,

24} , Carla Marini ₅ , Renzo Guerrini ₅ , Michael A Simpson ₂₅ , Deb K Pal _{1,

2,

8,

26}

Affiliation

Evelina London Children's Hospital, London, UK.
Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK.
Eli Lilly and Company, Erl Wood, Surrey, UK.
Clinic for Neuropediatrics, Schleswig-Holstein University Clinics, Kiel, Germany.
Meyer Children's Hospital, University of Florence, Florence, Italy.
Addenbrooke's Hospital, Cambridge, UK.
Birmingham Children's Hospital National Health Service Foundation Trust, Birmingham, UK.
King's College Hospital, London, UK.
St George's National Health Service Health Care Trust, London, UK.
Great Ormond Street Hospital for Children National Health Service Trust, London, UK.
Clinical Neurosciences, UCL - Institute of Child Health, London, UK.
Sheffield Children's National Health Service Foundation Trust, Sheffield, UK.
University Hospital of Leicester National Health Service Trust, Leicester, UK.
Chelsea and Westminster Hospital National Health Service Foundation Trust, London, UK.
Child Neurology and Psychiatry Unit, Martini Hospital, Turin, Italy.
Manchester Children's Hospital, Manchester, UK.
University of Nottingham, Nottingham, UK.
Danish Epilepsy Center, Dianalund, Denmark.
Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania.
Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany.
Department of Neurosurgery, University of Tübingen, Tübingen, Germany.
Division of Genetics and Molecular Medicine, King's College London, London, UK.
Medical Research Council Centre for Neurodevelopmental Disorders, King's College London, London, UK.

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).

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