Results 101 to 110 of about 1,141,201 (199)

Switching from zonisamide to perampanel improved the frequency of seizures caused by hyperthermia in Dravet syndrome: a case report

Journal of Medical Case Reports
Background Dravet syndrome is a severe epilepsy disorder characterized by drug-resistant seizures and cognitive dysfunction, often caused by SCN1A gene mutations.
Kazuhiro Horiuchi, Akihiko Kudo, Shuntaro Nakamura, Kazuki Yamada, Takashi Inoue, Shintaro Fujii, Yuki Oshima   +6 more
doaj   +1 more source

How Has the Treatment of Polish Children with Dravet Syndrome Changed? Future Perspectives

Biomedicines
Background: This report focuses on the treatment histories of 21 patients diagnosed with Dravet syndrome (DRVT) under the care of the Mother and Child Institute in Warsaw.
Anita Zielińska, Urszula Skarżyńska, Paulina Górka-Skoczylas, Tomasz Mazurczak, Aleksandra Kuźniar-Pałka, Karolina Kanabus, Dorota Hoffman-Zacharska, Elżbieta Stawicka   +7 more
doaj   +1 more source

Kindling Dravet Syndrome Symptoms from the Hippocampus [PDF]

, 2019
Thesis (Ph.D.)--University of Washington, 2019Dravet Syndrome is an epileptic condition with varied comorbidities caused by haploinsufficiency of the Scn1a gene, which encodes the alpha-1 subunit of the NaV1.1 sodium channel.
Stein, Rachael Elizabeth
core  

Silence around SUDEP and its impact on caregivers of individuals with developmental and epileptic encephalopathies: An international survey

Epilepsia Open, EarlyView.
Abstract Objective Sudden Unexpected Death in Epilepsy (SUDEP) is the leading cause of epilepsy‐related mortality, particularly in individuals with Developmental and Epileptic Encephalopathies (DEEs). The goal of this work is to assess SUDEP‐related knowledge, information practices, emotional and psychological impact, and the use of preventive measures
José Ángel Aibar, Ana Cantó Martínez, David Alarcón Alarcón, Eulalia Turón‐Viñas, Rima Nabbout, Isabella Brambilla, Franck Kalume, Danielle Andrade, Simona Giorgi   +8 more
wiley   +1 more source

DISORDERS ASSOCIATED WITH DRAVET SYNDROME

, 2019
UVOD: Dravet sindrom rijedak je i težak oblik tvrdokorne epilepsije karakteriziran pojavnošću različitih vrsta epileptičkih napadaja koji tipično počinju u prvoj godini života inače normalnog djeteta.
Naglič, Nuša
core   +1 more source

Multi‐omics–driven precision medicine

iMeta, EarlyView.
Multi‐omics‐driven precision medicine (MODPM) provides a multiscale, continuously learnable framework that integrates genomics, epigenomics, transcriptomics, proteomics, metabolomics, microbiome profiles, and clinical data. Powered by artificial intelligence and foundation models, MODPM enables cross‐modal representation learning, contextual modeling ...
Huibo Li, Zhe Zhao, Yifan Zhang, Yao Ma, Gaofei Hu, Min Zeng, Zhanqun Yang, Zixuan Zhao, Xin Zhou, Wei Hu, Yuxuan Sun, Meng Su, Jun Li, Matthew Whiteman, Wei Fu, Chao Zhong, Lemin Zheng, Long Chen, Hairong Lv, Rongsheng Zhao, Yi Zhun Zhu   +20 more
wiley   +1 more source

Donepezil increases resistance to induced seizures in a mouse model of Dravet syndrome

Annals of Clinical and Translational Neurology, 2019
De novo loss‐of‐function mutations in SCN1A are the main cause of Dravet syndrome, a catastrophic encephalopathy characterized by recurrent early‐life febrile seizures, a number of other afebrile seizure types that are often refractory to treatment, and ...
Jennifer C. Wong, Jacquelyn T. Thelin, Andrew Escayg   +2 more
doaj   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations

Case Reports in Medicine, 2019
Dravet syndrome, also known as severe myoclonic epilepsy in infancy, is a rare disease characterized by the appearance of different types of seizures in a healthy baby, triggered by various factors and stressful events.
Saada Alame, Eliane El-Houwayek, Caroline Nava, Sandra Sabbagh, Ali Fawaz, Anne-Celine Gillart, Dana Hasbini, Christel Depienne, André Mégarbané   +8 more
doaj   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source