Results 221 to 230 of about 161,013 (302)

Pyruvate dehydrogenase autoantibodies in autoantibody‐negative patients with seizures are associated with reduced pyruvate dehydrogenase activity

Epilepsia, EarlyView.
Abstract Objective We investigated the presence and potential functional relevance of antimitochondrial autoantibodies in patients suspicious for autoimmune encephalitis (AIE) associated with psychiatric symptoms and/or seizures, who were negative for known antineuronal autoantibodies.
Annika Breuer, Chiara A. Hummel, Tobias Baumgartner, Juliane L. Berns, Afaf Milad Said, Isabel Bünger, Susanne Schoch, Gábor Zsurka, Harald Prüss, Wolfram S. Kunz, Rainer Surges, Albert J. Becker, Julika Pitsch   +12 more
wiley   +1 more source

Distinct phenotype of isolated dizziness stroke: association with cerebellar infarctions and elevated LDL-C. [PDF]

Front Neurol
Zhang B, Liu X, Su X, Chu L, Wang H, Nie L, Yan S.   +6 more
europepmc   +1 more source

Meet the Editorial Team. An interview with Angelo Iulianella, Assistant Editor, Dalhousie University Faculty of Medicine, Canada

Developmental Dynamics, EarlyView.
Paul Trevorrow, Angelo Iulianella
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

The Cerebellar Cognitive-Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Large International Cross-Sectional Study. [PDF]

Mov Disord
Fortin J, Synofzik M, Pedneault-Tremblay ÉA, Hermle D, Thieme A, Timmann D, La Piana R, Brais B, Dolbec J, Côté I, Gagnon C, Traschütz A.   +11 more
europepmc   +1 more source

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

An MSA-P patient presenting with preserved glucose metabolism in the putamen, cerebellar hypometabolism and pronounced loss of presynaptic dopamine transporter in the striatum. [PDF]

EJNMMI Rep
Hesse S, Schiefer M, Tiepolt S, Prochnow D, Mämecke L, Hoffmann F, Schniewind I, Sabri O, Falkenburger B, Brock S.   +9 more
europepmc   +1 more source

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

RAB3A variants in ataxia and other neurodegenerative disorders. [PDF]

Brain
Percetti M, Monfrini E, Del Bo R, Canesi M, Cavallieri F, Di Rauso G, Fioravanti V, Del Prete E, Frosini D, Palermo G, Ceravolo R, Sacilotto G, Di Fonzo A.   +12 more
europepmc   +1 more source