Results 181 to 190 of about 202,258 (245)

Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care

Epilepsia Open, EarlyView.
Abstract Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of the most severe epilepsies, characterized by seizure onset and neurodevelopmental delay in infancy or childhood, often with additional neurological and systemic comorbidities.
Alex M. Dudley, Peter Widdess‐Walsh, Christine Linehan, Danielle M. Andrade, Norman Delanty, Patrick B. Moloney   +5 more
wiley   +1 more source

Response to Ng et al. on “Stimulus‐induced arousal with transient electroencephalographic improvement distinguishes nonictal from ictal generalized periodic discharges”

Epilepsia, EarlyView.
Philippe Gélisse, William O. Tatum, Arielle Crespel, Peter W. Kaplan   +3 more
wiley   +1 more source

Reversal of refractory epilepsy in an adult with GAMT deficiency: A case report and comparative literature review

Epilepsia Open, EarlyView.
Abstract Objective Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive creatine biosynthesis disorder. Reports specifically focusing on adult patients remain scarce. Methods We report a 52‐year‐old female (the oldest documented case of GAMT deficiency to date) presenting with severe intellectual disability, refractory ...
Wei‐Hung Sung, Hsi Chen, Che‐Wei Hsu, Meng‐Han Tsai   +3 more
wiley   +1 more source

An update on neuro-otology and neuro-ophthalmology - focusing on new developments in the last three years. [PDF]

J Neurol
Tarnutzer AA, Strupp ML, Lehner L.
europepmc   +1 more source

Altered gene expression in the liver and small intestine of horses with equine neuroaxonal dystrophy

Equine Veterinary Journal, EarlyView.
Abstract Background Equine neuroaxonal dystrophy/degenerative myeloencephalopathy (eNAD/EDM) is the second most common diagnosis of spinal ataxia in horses in the United States. The disease develops due to a combination of vitamin E deficiency and an unknown genetic risk factor(s), and there currently is no effective treatment.
Stephanie Ryan, Blythe Durbin‐Johnson, Kevin Woolard, Andrew D. Miller, Carrie J. Finno   +4 more
wiley   +1 more source

Ataxia with oculomotor apraxia type 2 due to the new compound heterozygous variants c.5825T>C (inherited) and c.6106+1G>T (de novo) in SETX. [PDF]

Clinics (Sao Paulo)
Fiorini AC, Scorza CA, Scorza FA, Finsterer J.   +3 more
europepmc   +1 more source

Analgesic use, safety and pharmacokinetics of acetaminophen in equids: A structured scoping review

Equine Veterinary Journal, EarlyView.
Abstract Background Despite its frequent use in equine clinical practice, scientific data on the use of acetaminophen in horses remain limited. Objective To map and critically appraise the available evidence on the analgesic use, safety and pharmacokinetics of acetaminophen in horses. Study Design Structured scoping review.
Francisco Medina‐Bautista, Juan Manuel Serrano‐Rodríguez, María del Mar Granados   +2 more
wiley   +1 more source

Veterinarian and breeder perspectives surrounding ovum pick‐up and intracytoplasmic sperm injection in mares: A survey study

Equine Veterinary Journal, EarlyView.
Abstract Background There is an ethical debate about the application of ovum pick‐up (OPU) and intracytoplasmic sperm injection (ICSI) in mares. Objectives To survey the opinions of equine veterinarians and breeders of sport horses on the ethics of using OPU–ICSI in mares. Study Design Cross‐sectional descriptive study.
Niamh Lewis, Jannie Spanner, Peter Daels, Juan Cuervo‐Arango, Monica Morganti, Pouya Dini, Kate Allen, Siobhan Mullan   +7 more
wiley   +1 more source