Results 81 to 90 of about 8,423 (186)

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

, 2003
Objectives: SCN1A mutations were recently reported in several patients with severe myoclonic epilepsy in infancy ( SMEI). The authors analyzed SCN1A mutations in 93 patients with SMEI and made genotype- phenotype correlation to clarify the role of this ...
Cristofori G., Matricardi A., Gennaro E, Granata T., Gaggero R, Madia F., Vigevano F, Fontana E., Madia F, Bertini E., Vallee L, Guerrini R., Romeo A, Valseriati D., Romeo A., Fontana E, Bertini E, Chiron C, Gaggero R., Loi M, Vigevano F., Dagna Bricarelli F, Zara F., Veggiotti P., La Selva L., Capovilla G., Dulac O, Veggiotti P, Bianchi A., Gennaro E., Loi M., Tzolas V., La Selva L, Vallee L., Lispi Ml, Tzolas V, Nabbout R, Lispi M. L., Matricardi A, Valseriati D, Chiron C., Guerrini R, Dulac O., Dalla Bernardina B, Bianchi A, Capovilla G, Elia M, Dalla Bernardina B., Elia M., R. Guerrini, DALLA BERNARDINA, Bernardo, Cristofori G, Granata T, Nabbout R., VEGGIOTTI, PIERANGELO, Dagna Bricarelli F.   +55 more
core   +1 more source

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

De novo SCN1A mutations in migrating partial seizures of infancy

, 2011
: Objective: To determine the genetic etiology of the severe early infantile onset syndrome of malignant migrating partial seizures of infancy (MPSI).
Suls, Arvid, Hamiwka, L., McMahon, J.M., De Jonghe, Peter, Carranza Rojo, D., et al.   +5 more
core   +2 more sources

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

Mouse with Nav1.1 haploinsufficiency, a model for Dravet syndrome, exhibits lowered sociability and learning impairment

Neurobiology of Disease, 2013
Dravet syndrome is an intractable epileptic encephalopathy characterized by early onset epileptic seizures followed by cognitive decline, hyperactivity, autistic behaviors and ataxia.
Susumu Ito, Ikuo Ogiwara, Kazuyuki Yamada, Hiroyuki Miyamoto, Takao K. Hensch, Makiko Osawa, Kazuhiro Yamakawa   +6 more
doaj   +1 more source

SCN1A polymorphisms influence the antiepileptic drugs responsiveness in Jordanian epileptic patients [PDF]

Journal of Medical Biochemistry, 2023
Background: The aim of this study was to evaluate whether the voltage-gated sodium channel alpha subunit 1 (SCN1A) gene polymorphisms influence the responsiveness of Jordanian epileptic patients to antiepileptic drugs (AEDs).
Abduljabbar Rami, Eid Tamimi Duaa, Yousef Al-Motassem, Mukred Saeed Ramzi, Zawiah Mohammed   +4 more
doaj  

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

Lack of SCN1A mutations in familial febrile seizures

, 2002
Purpose: Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS(+)) families and severe myoclonic epilepsy of infancy ...
GÜNEY, AHMET İLTER
core   +2 more sources

Upregulation of Haploinsufficient Gene Expression in the Brain by Targeting a Long Non-coding RNA Improves Seizure Phenotype in a Model of Dravet Syndrome

EBioMedicine, 2016
Dravet syndrome is a devastating genetic brain disorder caused by heterozygous loss-of-function mutation in the voltage-gated sodium channel gene SCN1A.
J. Hsiao, T.Y. Yuan, M.S. Tsai, C.Y. Lu, Y.C. Lin, M.L. Lee, S.W. Lin, F.C. Chang, H. Liu Pimentel, C. Olive, C. Coito, G. Shen, M. Young, T. Thorne, M. Lawrence, M. Magistri, M.A. Faghihi, O. Khorkova, C. Wahlestedt   +18 more
doaj   +1 more source

Artificial intelligence in preclinical epilepsy research: Current state, potential, and challenges

Epilepsia Open, EarlyView.
Abstract Preclinical translational epilepsy research uses animal models to better understand the mechanisms underlying epilepsy and its comorbidities, as well as to analyze and develop potential treatments that may mitigate this neurological disorder and its associated conditions. Artificial intelligence (AI) has emerged as a transformative tool across
Jesús Servando Medel‐Matus, Cesar Santana‐Gomez, Ruby G. Escalante, Dominique Duncan, Pedro F. Viana, Giulia Sofia Cereda, Naoto Kuroda, Aristea S. Galanopoulou   +7 more
wiley   +1 more source