Area of research
Psychiatry and Mental health · Cognitive Neuroscience
Research interest
Research interests include Epilepsy research and treatment, EEG and Brain-Computer Interfaces, Glycogen Storage Diseases and Myoclonus, and Neurological disorders and treatments.
Phenotypic Spectrum in Individuals With Pathogenic <i>GABRG2</i> Loss- and Gain-of-Function Variants
Cyclical Vomiting Syndrome in Individuals With BPTF Haploinsufficiency
Early neurological symptoms and epilepsy outcomes in individuals with the recurrent <scp> <i>GABRG2</i> </scp> p.( <scp>Ala106Thr</scp> ) gain‐of‐function variant: Structural and phenotypic insights
Epilepsy as a Novel Phenotype of BPTF-Related Disorders
A Reappraisal on cortical myoclonus and brief Remarks on myoclonus of different Origins
<i><scp>KCNT2</scp>‐</i>Related Disorders: Phenotypes, Functional, and Pharmacological Properties
Developmental epileptic encephalopathy in <i>DLG4</i>‐related synaptopathy
SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy
Sex-specific disease modifiers in juvenile myoclonic epilepsy
Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity
Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy
Answer to: Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy (Amadori E et al., 2022). EJMG-D-22-00384
<i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders
The Biology of Juvenile Myoclonic Epilepsy (BIOJUME) consortium: Revealing a sex difference in the influence of precipitants on seizure prognosis
University of Southern Denmark Research Portal (University of Southern Denmark) 2021cited by 0position: middle
Novel congenital disorder of <i>O</i>-linked glycosylation caused by GALNT2 loss of function
Trait impulsivity in Juvenile Myoclonic Epilepsy
Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES)
Treatment Responsiveness in KCNT1-Related Epilepsy
The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy
Clinical utility of EEG in diagnosing and monitoring epilepsy in adults
The landscape of epilepsy-related GATOR1 variants
Defining the phenotypic spectrum of <i>SLC6A1</i> mutations
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Standardized computer-based organized reporting of EEG: SCORE – Second version
Current standards of neuropsychological assessment in epilepsy surgery centers across Europe
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies
Testing patients during seizures: A European consensus procedure developed by a joint taskforce of the <scp>ILAE</scp> – Commission on European Affairs and the European Epilepsy Monitoring Unit Association
Is autopsy tissue a valid control for epilepsy surgery tissue in micro<scp>RNA</scp> studies?
MicroRNA profiles in hippocampal granule cells and plasma of rats with pilocarpine-induced epilepsy – comparison with human epileptic samples