Results 121 to 130 of about 18,296 (263)

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

Childhood-Onset Myoclonus-Dystonia Due to <i>KCTD17</i> Mutation: A Case Report and Review of Diagnostic Challenges. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Lin Y, Aoh Y, Lu MK.
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

Sleeping green: an Italian survey for the assessment of the relationship between sleep and vegetarian diet. [PDF]

Sleep Breath
Gorgoni M, Comparelli A, Frappetta S, Alfonsi V, Annarumma L, Pellegrini E, Camaioni M, Couyoumdjian A, Scarpelli S, De Gennaro L.   +9 more
europepmc   +1 more source

Rest‐activity patterns across development in two mouse models of autism and epilepsy

Epilepsia Open, EarlyView.
Abstract Objective Sleep disturbances are common in individuals with autism spectrum disorder (ASD) and epilepsy and are increasingly recognized as comorbidities that affect disease severity and quality of life. This study investigated rest‐activity patterns across development in two genetic mouse models relevant to ASD and epilepsy: synapsin 2 (Syn2 ...
Ipsa Dash, Filip Fredlund, Jenny Wickham, My Andersson, Christine T. Ekdahl   +4 more
wiley   +1 more source

Topiramate-Responsive Myoclonic Status Epilepticus in a Child with Progressive Myoclonus Epilepsy Due to Neuronal Ceroid Lipofuscinosis Type 8: A Case Report. [PDF]

Yonago Acta Med
Tsuchie H, Kawanami Y, Yoshino G, Okanishi T, Maegaki Y.   +4 more
europepmc   +1 more source

The prevalence of Streptococcus equi subsp. equi carriers in the Netherlands

Equine Veterinary Journal, EarlyView.
Abstract Background Streptococcus equi subspecies equi (S. equi) carriers are thought to be important drivers for strangles outbreaks. Limited data are available on the prevalence of carriers in European horse husbandry settings. Objectives To estimate the prevalence of S.
R. M. A. C. Houben, E. M. Broens, M. J. Broekhuizen‐Stins, M. M. Sloet van Oldruitenborgh‐Oosterbaan, C. van Maanen, J. A. P. Heesterbeek   +5 more
wiley   +1 more source

Letter to the Editor: Gastrointestinal Pseudo-Obstruction Is Not an Uncommon Phenotypic Manifestation of POLG1 Variants-Authors' Reply. [PDF]

Eur J Neurol
Capece G, Manara R, Salviati L, Viscomi C, Bello L, Pegoraro E.   +5 more
europepmc   +1 more source

Effect of exercise‐related nasopharyngeal disorders on upper airway function in racehorses

Equine Veterinary Journal, EarlyView.
Abstract Background Exercise‐related upper respiratory tract (URT) disorders are frequently diagnosed in racehorses. Treatment recommendations are routinely based on subjective assessment of clinical evaluation and exercising endoscopy findings. Objectives To objectively investigate how palatal instability (PI), intermittent dorsal displacement of the ...
Hanna Vermedal, Ingunn Risnes Hellings, Zoe L. Fretheim‐Kelly, Constanze Fintl, Eric Strand   +4 more
wiley   +1 more source

Diagnostic Dilemma in an Infant With Sound-Triggered Motor Events: Reflex Epilepsy Versus Exaggerated Startle-A Case Report. [PDF]

Clin Case Rep
Pandit A, Koirala M, Shahi A, Sharma A, Panta A, Rimal S.   +5 more
europepmc   +1 more source