PUBLICATION LIST

• A genome-wide search for alleles and haplotypes associated with autism and related pervasive developmental disorders on the Faroe Islands. Link
• A genome-wide study of panic disorder suggests the amiloride-sensitive cation channel 1 as a candidate gene. Link
• A new neurodevelopmental disorder linked to heterozygous variants in UNC79. Link
• An O-GlcNAc transferase pathogenic variant linked to intellectual disability affects pluripotent stem cell self-renewal. Link
• Analysis of shared heritability in common disorders of the brain. Link
• Are TMEM genes potential candidate genes for panic disorder? Link
• Association between genes on chromosome 19p13.2 and panic disorder. Link
• Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Link
• Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Link
• Clinical phenotype of GNAO1: Case report and Review of literature. Child Neurol Open. Link
• D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery. Link
• Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype. Link
• Epidemiology and outcome of idiopathic generalized epilepsy in adults. Link
• Epilepsy as a Novel Phenotype of BPTF-Related Disorders. Link
• Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised? Link
• GABRA1-Related Disorders: From Genetic to Functional Pathways. Link
• Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy. Link
• Gene panel testing in epileptic encephalopathies and familial epilepsies. Link
• Genetics of Panic Disorder on the Faroe Islands: A replication study of chromosome 9 and Panic Disorder. Link
• Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Link
• Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy. Link
• Impact of Genetic Testing on Therapeutic Decision-Making in Childhood-Onset Epilepsies-a Study in a Tertiary Epilepsy Center. Link
• Incorporating epilepsy genetics into clinical practice: a 360°evaluation. Link
• Intrafamilial variability in SLC6A1-related neurodevelopmental disorders. Link
• IRF2BPL as a novel causative gene for progressive myoclonus epilepsy. Link
• KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum. Link
• Mesial Temporal Sclerosis in SCN1A-Related Epilepsy: Two Long-Term EEG Case Studies. Link
• Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. Link
• Mutations in KCNT1 cause different epileptic phenotypes including cardiac abnormalities. Link
• Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. Link
• NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. Link
• Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters. Link
• Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution. Link
• Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function. Brain. Link
• Parental mosaicism in epilepsies due to alleged de novo variants. Link
• Patterns and prognostic markers for treatment response in generalized epilepsies. Link
• Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. Link
• PKD_Not always nomina sunt consequentia rerum. Link
• Possible evidence for a common risk locus for bipolar affective disorder and schizophrenia on chromosome 4p16 in patients from the Faroe Islands. Link
• Protocol to achieve high-resolution single-cell transcriptomics of cardiomyocytes in multiple species. Link
• Search for common haplotypes on chromosome 22q in patients with schizophrenia or bipolar disorder from the Faroe Islands. Link
• Search for susceptibility loci on selected chromosomes in patients with mental disorders from the Faroe Islands. Link
• The contribution of next generation sequencing to epilepsy genetics. Link
• The role of SLC2A1 in Early Onset and Childhood Absence Epilepsies. Link
• The spectrum of intermediate SCN8A-related epilepsy. Link
• X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease. Link