Katrine M. Johannesen
University of Southern Denmark
PediatricsEpilepsyDiseaseIntellectual disabilityMedicine
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Publications 26
#1Andreas Brunklaus (Glas.: University of Glasgow)H-Index: 10
#2Juanjiangmeng Du (University of Cologne)H-Index: 2
Last. Andrew Allen (MIT: Massachusetts Institute of Technology)H-Index: 5
view all 32 authors...
#2Cyril Mignot (University of Paris)H-Index: 24
Last. Gaetan LescaH-Index: 26
view all 14 authors...
Abstract Objective to investigate the clinical and EEG features of Encephalopathy with Status Epilepticus during slow Sleep (ESES) related to CNKSR2 pathogenic variants. Methods detailed clinical history, repeated wakefulness/overnight sleep EEGs, brain MRI were collected in five patients, including one female, with CNKSR2-related ESES. Results neurodevelopment in infancy was normal in two patients, delayed in three. Epilepsy onset (age range: 2-6 years) was associated with appearance or aggrava...
#2Diana Mitter (University of Southern Denmark)
Last. Rikke S. MøllerH-Index: 36
view all 38 authors...
Objective The study is aimed at widening the clinical and genetic spectrum and at assessing genotype-phenotype associations in QARS encephalopathy. Methods Through diagnostic gene panel screening in an epilepsy cohort, and recruiting through GeneMatcher and our international network, we collected 10 patients with biallelic QARS variants. In addition, we collected data on 12 patients described in the literature to further delineate the associated phenotype in a total cohort of 22 patients. Comput...
#1Eric R. Wengert (UVA: University of Virginia)H-Index: 3
Last. Rikke S. Møller (University of Southern Denmark)H-Index: 36
view all 17 authors...
2 CitationsSource
#1Henrike O. Heyne (Broad Institute)H-Index: 9
#2David Baez-Nieto (Broad Institute)H-Index: 6
Last. M. J. DalyH-Index: 178
view all 19 authors...
Summary Malfunctions of voltage-gated sodium and calcium channels (SCN and CACNA1 genes) have been associated with severe neurologic, psychiatric, cardiac and other diseases. Altered channel activity is frequently grouped into gain or loss of ion channel function (GOF or LOF, respectively) which is not only corresponding to clinical disease manifestations, but also to differences in drug response. Experimental studies of channel function are therefore important, but laborious and usually focus o...
#1Katrine M. Johannesen (University of Southern Denmark)H-Index: 10
#2Elena Gardella (University of Southern Denmark)H-Index: 21
Last. Rikke S. Møller (University of Southern Denmark)H-Index: 36
view all 45 authors...
5 CitationsSource
#1Rikke S. Møller (University of Southern Denmark)H-Index: 36
#2Trine B. HammerH-Index: 2
Last. Katrine M. Johannesen (University of Southern Denmark)H-Index: 10
view all 5 authors...
INTRODUCTION:Within the last decade, next-generation sequencing (NGS) has resulted in remarkable advances in the field of epilepsy genetics. NGS has become a routine part of the diagnostic workup in many countries. A workup that has led to higher diagnostic yields and insights into the underlying disease mechanisms. Areas covered: In this review, we report on the recent contributions of NGS testing to the diagnosis and the understanding of pathophysiological mechanisms, phenotypic variability, a...
4 CitationsSource
#1Yuanyuan Liu (University of Tübingen)H-Index: 3
#2Julian Schubert (University of Tübingen)H-Index: 12
Last. Holger Lerche (University of Tübingen)H-Index: 56
view all 18 authors...
10 CitationsSource
Fusobacterium species are components of the normal microbiota of the oral cavity, gastrointestinal tract, and female genital tract. They are increasingly recognized as causative agents of oral, laryngeal, and tonsillar infections. Several fusobacterial species are involved in infections, with F. necrophorum and F. nucleatum being the most commonly cultured subtypes. In this study, we aimed to investigate clinical and prognostic differences in terms of mortality and association with malignancy be...
#1Elena Gardella (Children's Hospital of Philadelphia)H-Index: 21
#2Carla Marini (Children's Hospital of Philadelphia)H-Index: 43
Last. Rikke S. Møller (Children's Hospital of Philadelphia)H-Index: 36
view all 28 authors...
Objective To delineate the electroclinical features of SCN8A infantile developmental and epileptic encephalopathy (EIEE13, OMIM #614558). Methods Twenty-two patients, aged 19 months to 22 years, underwent electroclinical assessment. Results Sixteen of 22 patients had mildly delayed development since birth. Drug-resistant epilepsy started at a median age of 4 months, followed by developmental slowing, pyramidal/extrapyramidal signs (22/22), movement disorders (12/22), cortical blindness (17/22), ...
18 CitationsSource