Results 171 to 180 of about 156,479 (260)

Diagnostic value of genetic testing in chorea: a retrospective monocentric study. [PDF]

J Neurol
Fodor TA, Milenkovic I, Zimprich A, Brücke C.   +3 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

Contrastive Learning Model for Wearable-Based Ataxia Assessment. [PDF]

IEEE Trans Biomed Eng
Lee J, Oubre B, Daneault JF, Stephen CD, Schmahmann JD, Gupta AS, Lee SI.   +6 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

Paraneoplastic neurologic syndrome in a 65-year-old woman with small cell lung cancer. [PDF]

CMAJ
Hiraoka Y, Hosoi Y, Yasumi K, Ozawa Y.
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

Homozygous PNPLA6 Mutation (p.Arg1183Trp) Associated With Isolated Cerebellar Ataxia: A Familial Case Report. [PDF]

Cureus
Alawadhi A, Almarzooqi A, Khan M, Alrukn S.   +3 more
europepmc   +1 more source

Ataxias in Brazil

Arquivos de Neuro-Psiquiatria
openaire   +4 more sources

Frequency of anti‐neural antibodies and autoimmune epilepsy in focal epilepsy of unknown etiology: An observational study in a Singaporean cohort

Epilepsia Open, EarlyView.
Abstract Objective Autoimmune epilepsy (AES) is increasingly recognized as a condition in patients with epilepsy of unknown etiology. Early immunotherapy improves outcomes; however, data on its prevalence and the frequency of anti‐neural/neuronal antibodies in Asian populations remain scarce.
Seong Jin Park, Jeanne May May Tan, Xuejuan Peng, Patricia Yut Wan Wong, Karine Su Shan Tay, Angelia Swee Hoon Koe, Janis Siew Noi Tye, Josiah Yui Huei Chai, Pei Xuan Koh, Yee Leng Tan, Sheila Srinivasan, Ngai Kun Loh, Nigel Choon Kiat Tan, Kevin Tan, Tianrong Yeo   +14 more
wiley   +1 more source