The Danish Epilepsy Association

Alternate names: Danish Epilepsy Association, Dansk Epilepsiforening, Epilepsiforeningen

ROR: 04115b814

OpenAlex ID: I4405272343

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

2013 · Gemma L Carvill, Sinéad B Heavin, et al. · Nature Genetics · 707

Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial

2019 · Lieven Lagae, Joseph Sullivan, et al. · The Lancet · 402

PDF

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

2014 · Mikko Muona, Samuel F Berkovic, et al. · Nature Genetics · 303

De novo variants in neurodevelopmental disorders with epilepsy

2018 · Henrike O. Heyne, Tarjinder Singh, et al. · Nature Genetics · 293

PDF

Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

2012 · Martin H. Berryer, Fadi F. Hamdan, et al. · Human Mutation · 274

Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

2007 · Heather C. Mefford, Séverine Clauin, et al. · The American Journal of Human Genetics · 274

The landscape of epilepsy-related GATOR1 variants

2018 · Sara Baldassari, Fabienne Picard, et al. · Genetics in Medicine · 258

PDF

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

2023 · Remi Stevelink, Ciarán Campbell, et al. · Nature Genetics · 254

PDF

Epilepsy, the Great Teacher

1967 · Wildek Penfield · Acta Neurologica Scandinavica · 242

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

2014 · Julian Schubert, Aleksandra Siekierska, et al. · Nature Genetics · 198

Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies

2017 · Silvia Masnada, Ulrike B S Hedrich, et al. · Brain · 170

PDF

CHD2variants are a risk factor for photosensitivity in epilepsy

2015 · Elizabeth C. Galizia, Candace T. Myers, et al. · Brain · 143

PDF

Epilepsia partialis continua: A review

2016 · Rūta Mameniškienė, Peter Wolf · Seizure · 129

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

2013 · Dennis Lal, Eva M. Reinthaler, et al. · PLoS ONE · 123

PDF

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

2017 · Carolien G. F. de Kovel, Steffen Syrbe, et al. · JAMA Neurology · 105

PDF

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

2018 · Ivan Ivanovski, Olivera Djuric, et al. · Genetics in Medicine · 103

PDF

Changes in Neurocognitive Architecture in Patients with Obstructive Sleep Apnea Treated with Continuous Positive Airway Pressure

2016 · Ivana Rosenzweig, Martin Glasser, et al. · EBioMedicine · 100

PDF

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

2017 · Steffen Syrbe, Frederike L Harms, et al. · Brain · 98

Automated Algorithm for Generalized Tonic–Clonic Epileptic Seizure Onset Detection Based on sEMG Zero-Crossing Rate

2011 · I. Conradsen, S. Beniczky, et al. · IEEE Transactions on Biomedical Engineering · 95

Imaging seizure activity: A combined EEG/EMG‐fMRI study in reading epilepsy

2008 · Afraim Salek‐Haddadi, Thomas Mayer, et al. · Epilepsia · 94

The contribution of next generation sequencing to epilepsy genetics

2015 · Rikke S. Møller, Hans A. Dahl, et al. · Expert Review of Molecular Diagnostics · 91

Validation of the ICSD-2 Criteria for CSF Hypocretin-1 Measurements in the Diagnosis of Narcolepsy in the Danish Population

2010 · Stine Knudsen, Poul J. Jennum, et al. · SLEEP · 91

Mowat–Wilson syndrome: an underdiagnosed syndrome?

2008 · E Engenheiro, RS Møller, et al. · Clinical Genetics · 88

A nonsense mutation in FMR1 causing fragile X syndrome

2011 · Karen Grønskov, Karen Brøndum-Nielsen, et al. · European Journal of Human Genetics · 87

Lennox–Gastaut syndrome in adulthood: Clinical and EEG features

2010 · Edoardo Ferlazzo, Marina Nikaronova, et al. · Epilepsy Research · 86

Works count: 130

Citation count: 11,070