Results 81 to 90 of about 1,141,201 (199)

Frontiers in EEG as a tool for the management of pediatric epilepsy: Past, present, and future

Epilepsia Open, EarlyView.
Abstract Electroencephalography (EEG) has evolved into an indispensable tool in pediatric epilepsy, fundamentally transforming the diagnosis, classification, and management of this condition. This review chronicles the historical journey of EEG from its groundbreaking inception to its current pivotal role in delineating distinct pediatric epilepsy ...
Hiroki Nariai
wiley   +1 more source

Acute Encephalopathy with Dravet Syndrome

, 2012
Researchers at thirteen university medical schools in Japan report 15 patients with Dravet syndrome complicated by acute ...
J Gordon Millichap
core   +1 more source

Genetic testing practices across European epilepsy centers: An ERN EpiCARE survey

Epilepsia Open, EarlyView.
Abstract Objective Genetic testing plays an increasing role in the diagnostic pathway for rare and complex epilepsies. However, significant heterogeneity persists in access, implementation, and interpretation across Europe. This study aimed to assess genetic testing practices, accessibility, and challenges across expert epilepsy centers within the ...
Sébile Tchaicha, Johanna Van Hulle, Eva Brilstra, Andreas Brunklaus, Gaetano Cantalupo, Martin Geroldinger, Amy McTague, Reetta Kälviäinen, Eulalia Turón‐Viñas, Alexis Arzimanoglou, Rikke S. Møller, Rima Nabbout   +11 more
wiley   +1 more source

Successful treatment of pediatric patient with Dravet syndrome with cenobamate: Case report

SAGE Open Medical Case Reports
Dravet syndrome, also known as severe myoclonic epilepsy of infancy, is an epileptic encephalopathy characterized by severe epilepsy accompanied by impaired psychomotor and neurologic development.
Oleg V Lobanov, Mary Bertrand
doaj   +1 more source

Atypical course of severe myoclonic epilepsy of infancy (Dravet syndrome)

Эпилепсия и пароксизмальные состояния
A clinical observation of a patient with Dravet syndrome caused by SCN1A gene mutation is presented. Dravet syndrome   is a severe epileptic encephalopathy that occurs in early childhood, accompanied by seizure polymorphism, drug-resistant course and ...
B. A. Abusueva, M. D. Shanavazova, М. A. Askevova, V. S. Khalilov, M. Yu. Bobylova   +4 more
doaj   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Disorders of early language development in Dravet syndrome

, 2016
The aim of this study was to investigate language disorders prospectively in patients with Dravet syndrome (DS) during the first years of life in order to identify their features and possibly the underlying mechanisms of the disease.
Dravet, Charlotte, Battaglia, Domenica, Ferrantini, Gloria, Chieffo, Daniela, Battaglia, Domenica Immacolata, Mercuri, Eugenio, Gambardella, Maria Luigia, Chieffo, Daniela Pia, Leo, Giuseppina, Mercuri, Eugenio Maria, Guzzetta, Francesco, Lucibello, Simona, Moriconi, Federica   +12 more
core   +1 more source

Computational protein stability analysis of SCN1A missense variants reveals domain‐dependent stability patterns

Epilepsia Open, EarlyView.
Abstract Objective To determine whether computational protein‐stability predictions discriminate pathogenic from benign SCN1A missense variants, and to characterize the structural distribution of predicted destabilization among pathogenic variants. Methods On an AlphaFold3‐predicted Nav1.1 structure, FoldX, and Rosetta Cartesian ΔΔG were computed for a
Youngkyu Shim, Eungu Kang, Naeun Kwak, Suhyun Kim   +3 more
wiley   +1 more source

Clobazam and Valproate, but Lamotrigine, a Sodium Channel Inhibitor, Reduce the Incidence of Hyperthermia-Induced Clonic Seizures in Dravet Syndrome Mice: Assessment of Anti-Seizure Effects in Mice Using a Stabilized Ambient Temperature System. [PDF]

Neuropsychopharmacol Rep
Using a stabilized incubator‐based hyperthermia model of Dravet syndrome, we showed that clobazam and valproate significantly reduced heat‐induced clonic seizures and delayed seizure onset in Scn1a KI/+ mice. In contrast, lamotrigine showed no protective effect.
Sato F, Nakamura M, Oishi M, Matsuo Y, Amada N, Wadatsu T, Jinnai N, Kakumoto Y, Maeda K, Yamasaki Y, Futamura T.   +10 more
europepmc   +2 more sources

A Case Report of Clobazam Toxicity Related to Cannabidiol and Clobazam Drug-drug Interaction

Translation, 2019
The interest in the anti-seizure efficacy of cannabinoids (CBD)has significantly increased over the past decade. Trials have shown a remarkable reduction in the frequency of convulsive seizures in Dravet and Lennox-Gastaut syndromes patient population ...
Rowida Kheireldin
doaj   +1 more source