Helle Hjalgrim

发表

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Christian E Elger, Holger Lerche, Ulrich Stephani, 2009, Nature Genetics.

Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

Christian Gieger, Holger Lerche, Ulrich Stephani, 2015, PLoS genetics.

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy

Holger Lerche, Peter Nürnberg, Andre Franke, 2013, Epilepsia.

The incidence of SCN1A‐related Dravet syndrome in Denmark is 1:22,000: A population‐based study from 2004 to 2009

Allan Bayat, R. Møller, A. Bayat, 2015, Epilepsia.

Detection of generalized tonic–clonic seizures by a wireless wrist accelerometer: A prospective, multicenter study

Sándor Beniczky, Tilman Polster, T. Kjaer, 2013, Epilepsia.

Quantitative analysis of surface electromyography during epileptic and nonepileptic convulsive seizures

Poul Jennum, Sándor Beniczky, Peter Wolf, 2014, Epilepsia.

Automated differentiation between epileptic and nonepileptic convulsive seizures

Poul Jennum, Sándor Beniczky, Peter Wolf, 2015, Annals of neurology.

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.

Holger Lerche, Renzo Guerrini, Christel Depienne, 2013, American journal of human genetics.

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.

Kenneth D. Mandl, Allison P. Heath, Eric Marsh, 2019, American journal of human genetics.

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Christian Gieger, Norman Delanty, Ellen Campbell, 2018, Nature Communications.