Explanipedia

Differential outcomes in familial and sporadic SCN8A self‐limited infantile epilepsies: Insights from a large international registry Open

Francesca Furia, Sopio Gverdtsiteli, Wibke G. Janzarik, Christian Korff, Gaëtan Lesca , et al. · 2025

Unmasking the role of the occipital lobe in epilepsy with eyelid myoclonia Open

Emilia Ricci, Tomasz Stanislaw Mieszczanek, Monica Zilmer, Katarzyna Cebula, Stefan Juhl , et al. · 2025

Epilepsy with eyelid myoclonia (EEM) is classified within the spectrum of genetic generalized epilepsies. However, the involvement of the occipital lobe in seizure generation in EEM remains a topic of debate. This study aims to investigate…

Fenfluramine treatment in pediatric patients with Dravet syndrome reduces seizure burden and overall healthcare costs: A retrospective and observational real‐world study Open

Cathrine E. Gjerulfsen, Marina Nikanorova, Kern Olofsson, Cecilie Johannessen Landmark, Guido Rubboli , et al. · 2024

Objectives Dravet syndrome is a developmental and epileptic encephalopathy characterized by early onset epilepsy with multiple seizure types often intractable to treatment. Randomized clinical trials have demonstrated how treatment with fe…

Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment Open

Allan Bayat, Stefano Iavarone, Francesco Miceli, Anne Vagner Jakobsen, Katrine M. Johannesen , et al. · 2023

While loss-of-function (LoF) variants in KCNQ2 are associated with a spectrum of neonatal-onset epilepsies, gain-of-function (GoF) variants cause a more complex phenotype that precludes neonatal-onset epilepsy. In the present work, the cli…

Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo‐controlled clinical trial Open

Joseph Sullivan, Lieven Lagae, J. Helen Cross, Orrin Devinsky, Renzo Guerrini , et al. · 2023

Objective This study was undertaken to assess the safety and efficacy of fenfluramine in the treatment of convulsive seizures in patients with Dravet syndrome. Methods This multicenter, randomized, double‐blind, placebo‐controlled, paralle…

Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment Open

Allan Bayat, Stefano Iavarone, Francesco Miceli, Anne Vagner Jakobsen, Katrine M. Johannesen , et al. · 2023

While loss-of-function (LoF) variants in KCNQ2 are associated with a spectrum of neonatal-onset epilepsies, gain-of-function (GoF) variants cause a more complex phenotype that precludes neonatal-onset epilepsy. We functionally characterize…

The KCNB1 phenotypic and genetic spectrum Open

Chiara Reale, Christina Fenger, Axel Neu, Sylvie Sukno, Sarah McKeown , et al. · 2021

Pharmacoresponse in Genetic Generalized Epilepsy: A Genome-Wide Association Study Open

Stefan Wolking, Herbert Schulz, Anne T. Nies, Mark McCormack, Elke Schaeffeler , et al. · 2020

Aim: Pharmacoresistance is a major burden in epilepsy treatment. We aimed to identify genetic biomarkers in response to specific antiepileptic drugs (AEDs) in genetic generalized epilepsies (GGE). Materials & methods: We cond…

Testing association of rare genetic variants with resistance to three common antiseizure medications Open

Stefan Wolking, Claudia Moreau, Anne T. Nies, Elke Schaeffeler, Mark McCormack , et al. · 2020

Objective Drug resistance is a major concern in the treatment of individuals with epilepsy. No genetic markers for resistance to individual antiseizure medication (ASM) have yet been identified. We aimed to identify the role of rare geneti…

Pharmacokinetic Variability and Clinical Use of Lacosamide in Children and Adolescents in Denmark and Norway Open

Margrete Larsen Burns, Marina Nikanorova, Arton Baftiu, Jan Borg Rasmussen, Svein I. Johannessen , et al. · 2019

Background: The indication for the antiepileptic drug lacosamide (LCM) was recently extended to include children from the age of 4 years. Real-life data on the use and serum concentrations of LCM in children and adolescents are limited. Th…

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study Open

Patrick May, Simon Girard, Merle Harrer, Dheeraj Reddy Bobbili, Julian Schubert , et al. · 2018

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

Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich, Silvia Masnada, Guido Rubboli , et al. · 2017

Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously repor…

Mutations in GABRB3 Open

Rikke S. Møller, Thomas V. Wuttke, Ingo Helbig, Carla Marini, Katrine M. Johannesen , et al. · 2017

Our results indicate that GABRB3 mutations are associated with a broad phenotypic spectrum of epilepsies and that reduced receptor function causing GABAergic disinhibition represents the relevant disease mechanism.

Review of clinical studies of perampanel in adolescent patients Open

Heung Dong Kim, Ching‐Shiang Chi, Tayard Desudchit, Marina Nikanorova, Anannit Visudtibhan , et al. · 2016

Aim To assess the clinical trial and real‐world data for adjunctive perampanel in adolescents and develop consensus recommendations to guide the use of perampanel in this population in clinical practice. Methods In May 2015, 15 epilepsy ex…

STXBP1 encephalopathy Open

Hannah Stamberger, Marina Nikanorova, Marjolein H. Willemsen, Patrizia Accorsi, Marco Angriman , et al. · 2016

De novo STXBP1 mutations are among the most frequent causes of epilepsy and encephalopathy. Most patients have severe to profound ID with little correlation among seizure onset, seizure severity, and the degree of ID. Accordingly, we hypot…

Effectiveness of antiepileptic therapy in patients with PCDH19 mutations Open

J Lotte, Thomas Bast, Peter Borusiak, Antonietta Coppola, J. Helen Cross , et al. · 2016

Subject Index Vol. 7, No. 4, 2016 Open

Pasquale Striano, Hanne Sørmo Sorte, Pasquale Parisi, Michele Iacomino, Ying Sheng , et al. · 2016

Author Index Vol. 7, No. 4, 2016 Open

Pasquale Striano, Hanne Sørmo Sorte, Pasquale Parisi, Michele Iacomino, Ying Sheng , et al. · 2016

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies Open

Rikke S. Møller, Line H.G. Larsen, Katrine M. Johannesen, Inga Talvik, Tiina Talvik , et al. · 2016

In recent years, several genes have been causally associated with epilepsy. However, making a genetic diagnosis in a patient can still be difficult, since extensive phenotypic and genetic heterogeneity has been observed in many monogenic e…

Title Page / Table of Contents Open

Pasquale Striano, Hanne Sørmo Sorte, Pasquale Parisi, Michele Iacomino, Ying Sheng , et al. · 2016

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome Open

Jan Larsen, Katrine M. Johannesen, Jakob Ek, Shan Tang, Carla Marini , et al. · 2015

Summary The first mutations identified in SLC 2A1 , encoding the glucose transporter type 1 ( GLUT 1) protein of the blood–brain barrier, were associated with severe epileptic encephalopathy. Recently, dominant SLC 2A1 mutations were found…

Perampanel for focal epilepsy: insights from early clinical experience Open

Eugen Trinka, Bernhard J. Steinhoff, Marina Nikanorova, Martin J. Brodie · 2015

Perampanel is approved for adjunctive therapy of focal epilepsy with or without secondarily generalized seizures in patients aged >12 years. This narrative review uses real-world and clinical trial data to elucidate perampanel's role in th…

Mutations in KCNT1 cause a spectrum of focal epilepsies Open

Rikke S. Møller, Sarah E. Heron, Line H.G. Larsen, Chiao Xin Lim, Michael G. Ricos , et al. · 2015

Summary Autosomal dominant mutations in the sodium‐gated potassium channel subunit gene KCNT 1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy ( NFLE ) and malignant migrating focal seizures of inf…

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures Open

Gemma L. Carvill, Jacinta M. McMahon, Amy Schneider, Matthew Zemel, Candace T. Myers , et al. · 2015

Effectiveness and Tolerability of Perampanel in Children and Adolescents with Refractory Epilepsies: First Experiences Open

Ulrich Stephani, Tiziana Tarallo, Thomas Bast, Kurt Schlachter, Martin Fleger , et al. · 2015

PER seems to be effective also in children and adolescents with pharmaco-refractory epilepsies. Tolerability was acceptable.

Encephalopathy with status epilepticus during sleep (ESES) induced by oxcarbazepine in idiopathic focal epilepsy in childhood Open

Elena Pavlidis, Guido Rubboli, Marina Nikanorova, Margarethe Sophie Kölmel, Elena Gardella · 2015

Encephalopathy with status epilepticus during sleep (ESES) is an age-related disorder characterized by neuropsychological regression, epilepsy and a typical EEG pattern of continuous epileptiform activity (> 85%) during NREM sleep. Cases o…

Marina Nikanorova YOU? Author Swipe