Results 51 to 60 of about 18,565 (309)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

PET Scanning in Partial Epilepsy [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 1991
ABSTRACT:Many biologically active tracers are available for positron emission tomography (PET) investigations, but most studies of epilepsy have utilized l8F-fluorodeoxyglucose (FDG) to measure local cerebral metabolic rate for glucose. Over 70% of patients with medically refractory partial seizures demonstrate an interictal zone of hypometabolism ...
openaire   +2 more sources

Timing matters: impact of anticonvulsant drug treatment and spikes on seizure risk in benign epilepsy with centrotemporal spikes [PDF]

, 2018
OBJECTIVE: Benign epilepsy with centrotemporal spikes (BECTS) is a common, self-limited epilepsy syndrome affecting school-age children. Classic interictal epileptiform discharges (IEDs) confirm diagnosis, and BECTS is presumed to be pharmacoresponsive ...
Chu, Catherine J., Eden, Uri T., Kramer, Mark A., Ross, Erin E., Xie, Wenting   +4 more
core   +1 more source

Patterns of Postictal Abnormalities in Relation to Status Epilepticus in Adults

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Abnormalities on peri‐ictal diffusion‐weighted magnetic resonance imaging (DWI‐PMAs) are well‐established for patients with status epilepticus (SE), but knowledge on patterns of DWI‐PMAs and their prognostic impact is sparse. Methods This systematic review and individual participant data meta‐analysis included observational studies ...
Andrea Enerstad Bolle, Silvana Sarria‐Estrada, Thomas Bonduelle, Bertram Daniel Dynesen, Manuel Toledo, Zhu Chung Che, Kjell Heuser, Anastasios Chatzikonstantinou, Jérôme Aupy, Udaya Seneviratne, Estevo Santamarina Perez, Christoph Patrick Beier   +11 more
wiley   +1 more source

Clinical study of levetiracetam or oxcarbazepine monotherapy in the treatment of focal epilepsy

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective To compare the clinical efficacy and safety of levetiracetam and oxcarbazepine in the treatment of focal epilepsy. Methods A total of 476 patients with focal epilepsy treated at Fujian Provincial Hospital from October 2020 to October 2022 were ...
WU Meng-qian, LI Yun-fei, LIN Shou-hua, ZHANG Xu, WANG Yin-zhou, WANG Qun   +5 more
doaj   +1 more source

Partial epilepsies: Choice of antiepileptic drugs in adults in the outpatient setting

Неврология, нейропсихиатрия, психосоматика, 2016
The paper depicts the author's view on how a neurologist/epileptologist chooses an antiepileptic drug in his practice under present-day conditions.
P. N. Vlasov
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Large-scale cortico-subcortical functional networks in focal epilepsies: The role of the basal ganglia

NeuroImage: Clinical, 2017
Objectives: The aim was to describe the contribution of basal ganglia (BG) thalamo-cortical circuitry to the whole-brain functional connectivity in focal epilepsies. Methods: Interictal resting-state fMRI recordings were acquired in 46 persons with focal
Eva Výtvarová, Radek Mareček, Jan Fousek, Ondřej Strýček, Ivan Rektor   +4 more
doaj   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source