List of works - Katrine M Johannesen

Bad news itself or just the messenger? The high mortality of Fusobacterium spp. infections is related to disseminated malignancy and other comorbidities

scientific article published on 10 May 2016

Basal ganglia dysmorphism in patients with Aicardi syndrome

scientific article published on 04 December 2020

Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy

scientific article published on 17 October 2019

Biological concepts in human sodium channel epilepsies and their relevance in clinical practice

scientific article published on 23 February 2020

Current knowledge of SLC6A1-related neurodevelopmental disorders

scientific article published on 13 October 2020

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

scientific article published on 10 December 2019

Defining the phenotypic spectrum of SLC6A1 mutations

scientific article published on 8 January 2018

Differences in mortality in Fusobacterium necrophorum and Fusobacterium nucleatum infections detected by culture and 16S rRNA gene sequencing

article

Early mortality in SCN8A-related epilepsies.

scientific article published on 13 April 2018

From next-generation sequencing to targeted treatment of non-acquired epilepsies

scientific article published on 04 February 2019

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

scientific article published in 2022

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

scientific article published on 20 August 2016

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

scientific article published on 4 March 2017

Genetic testing in adult epilepsy patients: A call to action for clinicians

scientific article published on 12 August 2020

Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implications

scientific article published on 25 August 2021

Lemierre's syndrome: current perspectives on diagnosis and management

scientific article

Lemierre's syndrome: the forgotten disease

scientific article published on April 2014

Letter to the editor: confirming neonatal seizure and late onset ataxia in SCN2A Ala263Val.

scientific article published on 9 May 2016

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

scientific article published on 4 January 2017

Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

scientific article published on 01 February 2019

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.