Results 61 to 70 of about 8,275 (187)

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Clinical review Severe Myoclonic Epilepsy in Infancy

, 2002
Purpose: Severe myoclonic epilepsy in infancy (SMEI) seems to be more common than realized, because it is often overlooked. In addition, the prognosis is poor despite of recent advances of antiepileptic treatment. This study is intended to provide better
김흥동
core  

Hyperexcitable cortical responses in progressive myoclonic epilepsy: a TMS study.

, 2001
Objective: Transcranial magnetic stimulation (TMS) has allowed investigators to study intracortical inhibition and facilitation and sensorimotor integration in motor disorders and epilepsy.
Fiaschi A., FIASCHI, Antonio, MANGANOTTI, PAOLO, Tamburin S., Zanette G., TAMBURIN, Stefano   +5 more
core   +1 more source

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

Genetics of Lafora progressive myoclonic epilepsy: current perspectives

, 2016
Miljana Kecmanović,1 Milica Keckarević-Marković,1 Dušan Keckarević,1 Galina Stevanović,2 Nebojša Jović,2 Stanka Romac,1,† 1Faculty of Biology, Center for Human Molecular Genetics, 2Clinic of Neurology and Psychiatry for Children and ...
Stevanović G, Keckarević-Marković M, Romac S, Jović N, Kecmanović M, Keckarević D   +5 more
core  

gene in juvenile myoclonic epilepsy

, 2015
Summary Genetic factors play a major role in the etiology of juvenile myoclonic epilepsy (JME), a common form of idiopathic generalized epilepsy, but so far, genes related to JME remain largely unknown. JME shares electroclinical features with Unverricht-
Pasquale Striano, Vito Sofia, Loredana Pennese, Umberto Aguglia, ZARA, FEDERICO, Patrizia Tarantino, Antonio Gambardella, Gambardella, Antonio, Aguglia, Umberto, STRIANO, PASQUALE, Federico Zara, Monica Gagliardi, Sofia, Vito, Angelo Labate, Silvana Franceschetti, Mumoli, Laura, Amedeo Bianchi, Edoardo Ferlazzo, Bianchi, Amedeo, Laura Mumoli, MICHELUCCI, ROBERTO, Renzo Guerrini, Franceschetti, Silvana, Pennese, Loredana, Grazia Annesi, Guerrini, Renzo, Marini, Carla, Carla Marini, Tarantino, Patrizia, Annesi, Grazia, Gagliardi, Monica, Roberto Michelucci, LABATE, ANGELO, Ferlazzo, Edoardo   +33 more
core   +1 more source

Ketogenic diet for infantile epileptic spasms

Epilepsia Open, EarlyView.
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury, Anamika Choudhary, Andy Cheuk‐Him Ng, Cezar Gavrilovici   +3 more
wiley   +1 more source

EFFICACY OF TOPIRAMATE AS ADD-ON THERAPY IN TWO DIFFERENT TYPES OF PROGRESSIVE MYOCLONIC EPILEPSY

, 2013
The present article describes two unrelated cases of progressive myoclonic epilepsy (PME) of the Lafora’s disease and Unverricht-Lundborg types who were treated with topiramate (TPM) as add-on therapy for their myoclonus.
Bülent Müngen, Hasan Hüseyin Özdemir, Caner Feyzi Demir   +2 more
core   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Progressive myoclonus epilepsy in Down syndrome with Alzheimer's disease: An 11‐year longitudinal study and proposed diagnostic red flags

Epilepsia Open, EarlyView.
Abstract Objective Individuals with Down syndrome (DS) face an ultra‐high risk of Alzheimer's disease (AD). Within this continuum, Progressive Myoclonus Epilepsy (PME) has emerged as a marker of advanced neurodegeneration. Building on our 2014 characterization of this syndrome, we aimed to define its long‐term natural history and pathological substrate.
Giuseppe d'Orsi, Ezio Calò, Maria Teresa Di Claudio, Carmela Pia Ferro, Umberto Costantino, Elio Perrone, Raffaela Rita Latino   +6 more
wiley   +1 more source