User profiles for "author:Rikke S Møller"

Rikke S Møller

Professor, Danish Epilepsy Centre
Verified email at filadelfia.dk
Cited by 16333

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy

H Stamberger, M Nikanorova, MH Willemsen… - Neurology, 2016 - AAN Enterprises
Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of
STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and …

[HTML][HTML] Epilepsy syndromes in the first year of life and usefulness of genetic testing for precision therapy

A Bayat, M Bayat, G Rubboli, RS Møller - Genes, 2021 - mdpi.com
The high pace of gene discovery has resulted in thrilling advances in the field of epilepsy
genetics. Clinical testing with comprehensive gene panels, exomes, or genomes are now …

The contribution of next generation sequencing to epilepsy genetics

RS Møller, HA Dahl, I Helbig - Expert review of molecular …, 2015 - Taylor & Francis
During the last decade, next generation sequencing technologies such as targeted gene
panels, whole exome sequencing and whole genome sequencing have led to an explosion …

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

GL Carvill, SB Heavin, SC Yendle, JM McMahon… - Nature …, 2013 - nature.com
Epileptic encephalopathies are a devastating group of epilepsies with poor prognosis, of
which the majority are of unknown etiology. We perform targeted massively parallel …

15q13. 3 microdeletions increase risk of idiopathic generalized epilepsy

I Helbig, HC Mefford, AJ Sharp, M Guipponi… - Nature …, 2009 - nature.com
Abstract We identified 15q13. 3 microdeletions encompassing the CHRNA7 gene in 12 of
1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in …

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

M Wolff, KM Johannesen, UBS Hedrich, S Masnada… - Brain, 2017 - academic.oup.com
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1. 2, have
been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we …

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

JR Lemke, D Lal, EM Reinthaler, I Steiner… - Nature …, 2013 - nature.com
Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy,
comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with …

Recurrent microdeletions at 15q11. 2 and 16p13. 11 predispose to idiopathic generalized epilepsies

CGF de Kovel, H Trucks, I Helbig, HC Mefford, C Baker… - Brain, 2010 - academic.oup.com
Idiopathic generalized epilepsies account for 30% of all epilepsies. Despite a predominant
genetic aetiology, the genetic factors predisposing to idiopathic generalized epilepsies …

The phenotypic spectrum of SCN8A encephalopathy

J Larsen, GL Carvill, E Gardella, G Kluger… - Neurology, 2015 - AAN Enterprises
Objective: SCN8A encodes the sodium channel voltage-gated α8-subunit (Nav1. 6). SCN8A
mutations have recently been associated with epilepsy and neurodevelopmental disorders …

[PDF][PDF] De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

S Appenzeller, R Balling, N Barisic, S Baulac… - The American Journal of …, 2014 - cell.com
Emerging evidence indicates that epileptic encephalopathies are genetically highly
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to …