Elena Gardella
University of Southern Denmark
Internal medicinePhenotypeSurgeryPathologyHumanitiesPsychologyNeuroscienceIctalPediatricsStatus epilepticusEpilepsyEncephalopathyCentral nervous system diseaseEpilepsy surgerySeizure typesAnesthesiaElectroencephalographyAudiologyIntellectual disabilityMedicineBiology
126Publications
27H-index
2,675Citations
Publications 138
Newest
We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel NaV1.6, with the aim of describing clinical phenotypes related to functional effects. Six different clinical subgroups could be identified: 1) Benign familial infantile epilepsy (BFIE) (n = 15, normal cognition, treatable seizures), 2) intermediate epilepsy (n = 33, mild ID, partially pharmaco-responsive), 3) developmenta...
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#1David Liang (UCPH: University of Copenhagen)H-Index: 1
#2Elena Gardella (University of Southern Denmark)H-Index: 27
Last. Maurizio Sessa (UCPH: University of Copenhagen)H-Index: 13
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ABSTRACT null null Objective null To compare the hazard for all-cause mortality and mortality due to heart failure (HF) between valproate (VPA) and levetiracetam (LEV)/lamotrigine (LTG) users in patients aged ≥ 65 with comorbidities of epilepsy and HF. null null null Methods null This was a cohort study using Danish registers during the period from January 1996 to July 2018. The study population included new users of LTG, LEV or VPA. A Cox regression model was used to compute crude and adjusted ...
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#1Claudia M. BonardiH-Index: 1
#2Henrike O. Heyne (Broad Institute)H-Index: 15
Last. Hannah StambergerH-Index: 12
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Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with a spectrum of epilepsies and neurodevelopmental disorders. These range from familial autosomal dominant or sporadic sleep-related hypermotor epilepsy ((AD)SHE) to epilepsy of infancy with migrating focal seizures (EIMFS) and include developmental and epileptic encephalopathies (DEE). This study aims to provide a comprehensive overview of the phenotypic and genotypic spectrum of KCNT1 mu...
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#1Katrine M Johannesen (University of Southern Denmark)H-Index: 13
#2Sumaiya Iqbal (Broad Institute)H-Index: 11
Last. Roser Pons (UoA: National and Kapodistrian University of Athens)H-Index: 22
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Objective: Pathogenic variants in GABRB3 have been associated with a spectrum of phenotypes from severe developmental disorders and epileptic encephalopathies to milder epilepsy syndromes and mild intellectual disability. In the present study, we analyzed a large cohort of individuals with GABRB3 variants to deepen the phenotypic understanding and investigate genotype-phenotype correlations. Methods: Through an international collaboration, we analyzed electro-clinical data of unpublished individ...
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#2Sofia Douzgou (University of Manchester)H-Index: 18
Last. Pasquale Striano (Istituto Giannina Gaslini)H-Index: 68
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PURPOSE Epilepsy is a main manifestation in the autosomal dominant mental retardation syndrome caused by heterozygous variants in MEF2C. We aimed to delineate the electro-clinical features and refine the genotype-phenotype correlations in patients with MEF2C haploinsufficiency. METHODS We thoroughly investigated 25 patients with genetically confirmed MEF2C-syndrome across 12 different European Genetics and Epilepsy Centers, focusing on the epileptic phenotype. Clinical features (seizure types, o...
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We report detailed functional analyses and genotype-phenotype correlations in 433 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel NaV1.6. Five different clinical subgroups could be identified: 1) Benign familial infantile epilepsy (BFIE) (n=17, normal cognition, treatable seizures), 2) intermediate epilepsy (n=36, mild ID, partially pharmacoresponsive), 3) developmental and epileptic encephalopathy (DEE, n=191, severe ID, majority pharmacoresistant)...
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#1Anca Adriana Arbune (UMFCD: Carol Davila University of Medicine and Pharmacy)H-Index: 3
Last. Sándor Beniczky (Aarhus University Hospital)H-Index: 32
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Abstract Objective To test the hypothesis that significant changes in the occurrence of interictal epileptiform electroencephalography (EEG) discharges (EDs) are associated with seizures: while some EDs are pro-convulsive, increasing at seizure-occurrence, others are protective, showing decrease related to seizures. Methods We analyzed 102 consecutive, long-term video-EEG monitoring sessions, from 98 patients. Using a semi-automated spike-detection method, we quantified the occurrence of EDs, gr...
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#1Patricia Braga (University of the Republic)H-Index: 5
#2Ruta Mameniskiene (Vilnius University)H-Index: 11
Last. Peter Wolf (UFSC: Universidade Federal de Santa Catarina)H-Index: 15
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This study aimed to analyse the effect of neuropsychological activation methods on interictal epileptiform discharges, compared to standard activation methods, for both focal and generalized epilepsies. This was a multicentre, prospective study including 429 consecutive EEG recordings of individuals with confirmed or suspected diagnosis of epilepsy. Neuropsychological activation included reading aloud in foreign and native language, praxis and a letter cancelation task (each with a duration of t...
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Last. Sándor Beniczky (Aarhus University Hospital)H-Index: 32
view all 7 authors...
Abstract Objective To characterize photoparoxysmal EEG response (PPR) using a standardized protocol of intermittent photic stimulation (IPS) and standardized definitions for PPR, classified into six types. Methods Using the SCORE system (Standardized Computer-Based Organized Reporting of EEG) we prospectively built a large database of standardized EEG annotations. In this study, we extracted the features related to PPR from the structured dataset consisting of 10,671 EEG recordings with IPS, fro...
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#1Hannah Stamberger (University of Antwerp)H-Index: 12
#2Trine Bjørg Hammer (Copenhagen University Hospital)H-Index: 6
Last. Ingrid E. SchefferH-Index: 126
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Purpose Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), autism spectrum disorder, and epilepsy. We aimed to delineate the female and male phenotypic spectrum of NEXMIF encephalopathy. Methods Through an international collaboration, we analyzed the phenotypes and genotypes of 87 patients with NEXMIF encephalopathy. Results Sixty-three females and 24 males (46 new patients) with NEXMIF encephalopathy were studied, with 30 nove...
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