User profiles for "author:Rikke S Møller"
Rikke S MøllerProfessor, 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 …
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
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 …
genetics. Clinical testing with comprehensive gene panels, exomes, or genomes are now …
The contribution of next generation sequencing to epilepsy genetics
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 …
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 …
which the majority are of unknown etiology. We perform targeted massively parallel …
15q13. 3 microdeletions increase risk of idiopathic generalized epilepsy
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 …
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 …
been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we …
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy,
comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with …
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 …
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 …
mutations have recently been associated with epilepsy and neurodevelopmental disorders …
[PDF][PDF] De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
Emerging evidence indicates that epileptic encephalopathies are genetically highly
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to …
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to …