Results 61 to 70 of about 1,796 (193)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Autoimmune Encephalitis in Acute Care—Pathology, Diagnosis, and Management

Advanced Science, EarlyView.
ABSTRACT Autoimmune encephalitis (AE) is characterized by immune‐mediated inflammation of the brain parenchyma, presenting with various neurological syndromes, including but not limited to seizures, altered consciousness, neuropsychiatric symptoms, and movement disorders.
Suneesh Thilak, David Okoh, William Scotton, Shanika Samarasekera, Vikram Patil, Suresh Renukappa, Andrew Macduff, Subashini Suresh, Rajeev Krishnadas, Tonny Veenith   +9 more
wiley   +1 more source

A less aggressive approach to the management of super refractory status epilepticus

Journal of Pediatric Critical Care, 2021
Febrile infection-related epilepsy syndrome (FIRES) is a rare catastrophic encephalopathy of unknown etiology. It commonly affects previously healthy children.
Madhumathi Gunasekaran, Gowthami Reddi, Ayyammal Palaniappan, Velmurugan Singaravadivelu, Ramakrishnan Tirupur Chinnappan Ramalingam   +4 more
doaj   +1 more source

A guide to neuromodulation in drug‐resistant epilepsy

Epileptic Disorders, EarlyView.
Abstract Neuromodulation is approved for the treatment of drug‐resistant epilepsy. It has been increasingly utilized over the past two decades with the approval of deep brain stimulation (DBS) and responsive neurostimulation (RNS) in addition to vagus nerve stimulation (VNS)—particularly in patients who are not deemed to be good resective surgical ...
Prachi Parikh, Irena Dolezawa, Manu Hegde, Lukas Imbach, Brian N. Lundstrom, Francesca Pizzo, Vikram R. Rao, Jaysingh Singh, Derek Southwell, Satsuke Watanabe, Birgit Frauscher   +10 more
wiley   +1 more source

Efficacy of lacosamide in neonatal‐onset super‐refractory status epilepticus: a case report

, 2021
: We report the case of a previously healthy newborn who developed super-refractory status epilepticus after Group B streptococcal meningoencephalitis.
Veronica Bertozzi, Clarissa Tona, Gaia Biscalchin, Tona, Clarissa, Stefano Sartori, Biscalchin, Gaia, Bertozzi, Veronica, Sartori, Stefano, Bonardi, Claudia M, Claudia M. Bonardi, Angela Amigoni, Amigoni, Angela   +11 more
core   +1 more source

Seminars in epileptology: Holistic management of epilepsy in adults with intellectual development disorders

Epileptic Disorders, EarlyView.
Abstract This seminar addresses the complexity of the management of epilepsy in adults with intellectual development disorders (IDD), advocating holistic and multidisciplinary care aligned with the learning objectives of the International League Against Epilepsy. Epilepsy is significantly more prevalent in people with IDD, presenting unique diagnostic,
Elena Fonseca, Antonella Riva, Samuel López‐Maza, Malin Zaddach, Marie‐Claire Porter, Ingo Borggraefe, Lance Watkins, Andreas Schulze‐Bonhage, Rohit Shankar, Pasquale Striano, Lina Nashef   +10 more
wiley   +1 more source

Super Refractory Status Epilepticus

, 2017
Earlier definitions of status epilepticus (SE) were based on the duration of seizures, but newer definitions rely more on a pragmatic staging based on treatment failures (Table 23.1). Refractory status epilepticus (RSE) is defined as SE that continues despite administration of both benzodiazepines and an appropriately dosed second-line antiseizure drug.
Zachariah, Joseph, Britton, Jeff, Hocker, Sara   +2 more
openaire   +1 more source

Management of super refractory status epilepticus

Anaesthesia, Pain & Intensive Care, 2020
Super refractory status epilepticus ( SRSE ) is the status epilepticus in which the seizures continue for 24 hour or more after anesthetic medications to control and reappear when the patient is weaned from the anesthetic agent. Characteristic seizures are distinguished, by the presence and/or absence of motor seizure, into convulsive and non ...
Wardah Rahmatul Islamiyah, Hanik Badriyah Hidayati, Abdulloh Machin, Dedy Kurniawan   +3 more
openaire   +2 more sources

Ranking of antiseizure medications in a panel of focal seizure models predicts their comparative efficacy in clinical add‐on trials in drug‐resistant focal epilepsy

Epilepsia, EarlyView.
Abstract Objective Most antiseizure medications (ASMs) have been discovered by testing in animal models, which are generally thought to predict antiseizure activity in patients. However, it is not known whether any of these models (or a combination of models) can predict whether a novel ASM exhibits higher clinical efficacy in focal drug‐resistant ...
Wolfgang Löscher, Pavel Klein
wiley   +1 more source

Burden of illness for super-refractory status epilepticus patients [PDF]

Journal of Medical Economics, 2016
To provide an estimate of the annual number of super-refractory status epilepticus (SRSE) cases in the US and to evaluate utilization of hospital resources by these patients.The Premier Hospital Database was utilized to estimate the number of SRSE cases based on hospital discharges during 2012.
Jamil M. Beg, Thomas D. Anderson, Kevin Francis, Lisa M. Meckley, David Fitzhenry, Todd Foster, Susheel Sukhtankar, Stephen J. Kanes, Lidia M. V. R. Moura   +8 more
openaire   +2 more sources