Results 181 to 190 of about 9,291 (257)

Spectrum of Dystonia in Spinocerebellar Ataxia. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Yellaturi SR, Mukherjee A, Pandey S.
europepmc   +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

Past, present, and future of genomic technologies in cerebellar ataxias. [PDF]

J Neurol
Lucain M, Duffourd Y, Malbos M, Vitobello A, Thauvin-Robinet C, Thomas Q.   +5 more
europepmc   +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

Leveraging machine learning for digital gait analysis in ataxia using sensor-free motion capture. [PDF]

Commun Med (Lond)
Wegner P, Grobe-Einsler M, Reimer L, Kahl F, Koyak B, Elter T, Lange A, Kimmich O, Soub D, Hufschmidt F, Bernsen S, Ferreira M, Klockgether T, Faber J.   +13 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

Deciphering Spastic Ataxia: Clinical and Genetic Profiles. [PDF]

Neurol Genet
Damásio J, Santos M, Costa S, Moura J, Sardoeira A, Lemos C, Oliveira J, Barros J, Sequeiros J.   +8 more
europepmc   +1 more source

Optimizing polytherapy management for Dravet syndrome in the United States: A National Expert Consensus

Epilepsia Open, EarlyView.
ABSTRACT Objectives Dravet syndrome (DS) is a severe, drug‐resistant developmental and epileptic encephalopathy (DEE) that requires polytherapy for adequate seizure control. The need to combine multiple antiseizure medications (ASMs), together with variability in seizure types, safety considerations, and evolving patient needs, makes treatment ...
Elaine Wirrell, Joseph Sullivan
wiley   +1 more source

Clinical characteristics, cerebellar MR spectroscopy and response to 3,4-diaminopyridine in spinocerebellar ataxia 27B: the Sheffield Ataxia Centre experience. [PDF]

J Neurol
Chukwuocha I, Pellerin D, Shanmugarajah P, Tsironis T, Foster E, Hoggard N, Beauchamp N, Turton L, McNeill A, Brais B, Hadjivassiliou M.   +10 more
europepmc   +1 more source