Results 231 to 240 of about 308,172 (351)

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

A 10-Year-Old Boy With Ataxia-Telangiectasia: A Rare Case Report From Yemen. [PDF]

Clin Med Insights Case Rep
Muneer M, Al-Kubati A, Al-Ghashm A, Albaseer L, Sleiay B, Alkubati A, Shallan M, Alhofari BM, Salama Daas L.   +8 more
europepmc   +1 more source

Bilateral sensorineural hearing loss and cerebellar ataxia in the case of late stage Lyme disease

, 2012
Pierre Bertholon, Céline Cazorla, Anne Carricajo, A. Oletski, Bernard Laurent   +4 more
openalex   +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

Author Correction: HMGB2-induced calreticulin translocation required for immunogenic cell death and ferroptosis of cancer cells are controlled by the nuclear exporter XPO1

Communications Biology
Jingqi Fan, Kevin P. Gillespie, Clementina Mesaros, Ian A. Blair   +3 more
doaj   +1 more source

Not All Who Stagger Are Drunk: Ocular and Gait Abnormalities in a Young Adult. [PDF]

J Am Coll Emerg Physicians Open
Knapp BJ, Knapp J, Kauffman L, Kulbeth H, Feyzeau K.   +4 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

Autoimmune cerebellopyramidal syndrome as a complex form of autoimmune cerebellar ataxia: a cohort study. [PDF]

Front Immunol
Liu M, Ren H, Fan S, Zhang L, Guan H.
europepmc   +1 more source

Cerebellar Ataxia [PDF]

Proceedings of the Royal Society of Medicine, 1911
openaire   +2 more sources

Stiripentol use in Dravet syndrome patients in the USA: Results of a real‐world study

Epilepsia Open, EarlyView.
Abstract Objective Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy with a high seizure burden and mortality risk. Stiripentol, one of the first DS‐specific therapies, received FDA approval in 2018 but its real‐world use and impact post‐approval in the USA remain insufficiently characterized.
Elaine Wirrell, James Wheless, Michael Scott Perry, Linda Laux, Karen C. Keough, Julie Ziobro, Aimee F. Luat, Gewalin Aungaroon, Michael A. Ciliberto, Roxane Noel, Laurent Chancharme, Joseph Sullivan   +11 more
wiley   +1 more source