Results 51 to 60 of about 2,272,583 (371)

Pharmacological Characterization of an Antisense Knockdown Zebrafish Model of Dravet Syndrome: Inhibition of Epileptic Seizures by the Serotonin Agonist Fenfluramine

PLoS ONE, 2015
Dravet syndrome (DS) is one of the most pharmacoresistant and devastating forms of childhood epilepsy syndromes. Distinct de novo mutations in the SCN1A gene are responsible for over 80% of DS cases.
Yifan Zhang, A. Kecskés, Daniëlle Copmans, M. Langlois, A. Crawford, B. Ceulemans, L. Lagae, P. D. de Witte, Camila V. Esguerra   +8 more
semanticscholar   +1 more source

The syndrome of isolated epileptic status [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1971
Within a group of 23 patients who presented with status epilepticus a syndrome is defined in which sudden unheralded status occurs in apparently healthy individuals. Recovery from the attack is complete and no other evidence of cerebral pathology may be found at the time.
C. W. M. Whitty, J. M. Oxbury
openaire   +2 more sources

Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients

, 2023
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 284-288, January 2023.
Lucia Pia Bruno, Gabriella Doddato, Margherita Baldassarri, Caterina Lo Rizzo, Sara Resciniti, Mirella Bruttini, Lista Mirjam, Kristina Zguro, Simone Furini, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani   +11 more
wiley   +1 more source

Postictal Syndrome Associated with Epileptic Seizure

Archives of Epilepsy, 2020
Postictal syndrome (PIS) includes clinical, biological, electroencephalography and magnetic resonance imaging findings following the termination of a seizure.
Zeynep Ece KAYA GÜLEÇ, Seher Naz YENİ
doaj   +1 more source

Seizure Prediction Using Bidirectional LSTM [PDF]

, 2019
Approximately, 50 million people in the world are affected by epilepsy. For patients, the anti-epileptic drugs are not always useful and these drugs may have undesired side effects on a patient's health. If the seizure is predicted the patients will have enough time to take preventive measures. The purpose of this work is to investigate the application
arxiv   +1 more source

Epileptic seizures in children with congenital Zika virus syndrome

Revista Brasileira de Saúde Materno Infantil
Objectives: to describe preliminary data referred to epileptic seizures and the probability of occurring these epileptic seizures in the infants' first months of life with congenital Zika virus (ZIKV) syndrome. Methods: concurrent cohort study including
Lucas Victor Alves, Danielle Di Cavalcanti Sousa Cruz, Ana Maria Campos van der Linden, Ana Rodrigues Falbo, Maria Júlia Gonçalves de Mello, Camila Esteves Paredes, Germanna Virginya Cavalcanti Silva, José Natal Figueiroa, Patrícia Gomes de Matos Bezerra   +8 more
doaj   +1 more source

Cytokines and neuro-specific proteins in viral encephalitis and convulsive syndrome in children. II. Convulsive syndrome

Инфекция и иммунитет, 2021
In this Section we provide new data on the pathogenetic factors in pediatric convulsive syndrome, including a prominent role of viral infection in developing seizures and epilepsy (EPL) in children, as evidenced by clinical and experimental studies ...
L. A. Alekseeva, G. F. Zheleznikova, E. Y. Gorelik, N. V. Sckripchenko, A. A. Zhirkov   +4 more
doaj   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Soft Syndrome Decoding of Quantum LDPC Codes for Joint Correction of Data and Syndrome Errors [PDF]

arXiv, 2022
Quantum errors are primarily detected and corrected using the measurement of syndrome information which itself is an unreliable step in practical error correction implementations. Typically, such faulty or noisy syndrome measurements are modeled as a binary measurement outcome flipped with some probability.
arxiv  

Dravet syndrome—From epileptic encephalopathy to channelopathy

Epilepsia, 2014
Mutations in the gene encoding the α1 subunit of the voltage gated sodium channel (SCN1A) are associated with several epilepsy syndromes, ranging from relatively mild phenotypes found in families with genetic epilepsy with febrile seizures plus (GEFS ...
A. Brunklaus, S. Zuberi
semanticscholar   +1 more source