Results 51 to 60 of about 2,837 (201)

Drug Treatment of Progressive Myoclonic Epilepsy

Pediatric Drugs, 2020
The progressive myoclonic epilepsies (PMEs) represent a rare but devastating group of syndromes characterized by epileptic myoclonus, typically action-induced seizures, neurological regression, medically refractory epilepsy, and a variety of other signs and symptoms depending on the specific syndrome.
openaire   +3 more sources

Mental health impacts experienced by caregivers of people with Dravet syndrome: A systematic literature review

Epilepsia, EarlyView.
Graphical abstract for the systematic literature review. Abstract Objective Dravet syndrome (DS) places tremendous burden on caregivers owing to the extent of required assistance and impact on daily living, as well as the risk to the individual with DS of premature mortality from sudden unexpected death in epilepsy and morbidity associated with ...
Adam Strzelczyk, Mary Anne Meskis, Galia Wilson, Bobby Jacob, Christoph Helmstaedter, Jane von Gaudecker, Veronica Hood, Ceri Hughes, Michael Scott Perry   +8 more
wiley   +1 more source

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +1 more source

Serum NfL, GFAP, and p‐tau217 in adults with drug‐resistant epilepsy and intellectual disabilities: Signs of ongoing neural injury

Epilepsia, EarlyView.
Abstract Objective Adults with epilepsy and intellectual disabilities (IDs) may be at increased risk of dementia, but clinical evaluation is complex and use of conventional biomarkers is often considered too invasive. We explored abnormality of serum neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), and phosphorylated tau‐217 (p ...
Hadassa Kwetsie, Inge M. W. Verberk, Jans S. van Ool, Anneke J. J. Rampen, Rebecca Z. Rousset, Nicole I. Wolf, Dederieke A. M. Maes‐Festen, Clara D. M. van Karnebeek, Charlotte E. Teunissen, Erik Boot, Agnies M. van Eeghen   +10 more
wiley   +1 more source

Persistent myoclonic jerks: a case of epilepsia partialis continua or myoclonic progressive epilepsy?

, 2021
Introduction: Patients with myoclonic jerks and seizures represent a diagnostic and therapeutic challenge as they fall under the differential diagnosis of uncommon and often difficult to diagnose diseases.
L. Polizzi, B. Casellotti, L. Canafoglia, E. Freri, R. Coa, S. Franceschetti, T. Granata, G. Defazio, M. Puligheddu, M. Melis   +9 more
core  

CaMKIIβ insufficiency disrupts cortical networks, producing aberrant low‐gamma oscillations and seizure susceptibility

Epilepsia, EarlyView.
Abstract Objective Pathogenic variants in the calcium/calmodulin‐dependent protein kinase II B gene (CAMK2B) have been associated with neurodevelopmental disorders, including epilepsy, yet the mechanisms underlying cortical dysfunction remain largely unclear.
Hiroki Mutoh, Kazushi Aoto, Atsuo Fukuda, Hirotomo Saitsu   +3 more
wiley   +1 more source

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

Biological Bases of Symptomatic Generalized Epilepsies in Children

, 2017
Symptomatic generalized epilepsies represent a group of challenging epilepsy syndromes, most often seen in children, which share the hallmark of a triad encompassing multiple seizure types, electroencephalographical (EEG) evidence of diffuse brain ...
O. Carter Snead, Miguel A. Cortez, Jose Luis Perez Velazquez, Dragos A. Nita   +3 more
core   +1 more source

History of familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy around the world

, 2023
Familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy (FAME/BAFME) has emerged as a specific and recognizable epilepsy syndrome with autosomal dominant inheritance found around the world.
Tsuji, S, Berkovic, SF, Striano, P
core   +1 more source

Next‐generation sequencing in pediatric‐onset epilepsies: Analysis with target panels and personalized therapeutic approach

Epilepsia Open
Objective The objective of this study is to report the results of the genetic analysis in a large and well‐characterized population with pediatric‐onset epilepsies and to identify those who could benefit from precision medicine treatments.
Barbara Castellotti, Francesca Ragona, Elena Freri, Giuliana Messina, Stefania Magri, Roberto Previtali, Roberta Solazzi, Silvana Franceschetti, Franco Taroni, Laura Canafoglia, Cinzia Gellera, Tiziana Granata, Jacopo C. DiFrancesco   +12 more
doaj   +1 more source