Results 181 to 190 of about 347,356 (359)

Cannabidiol attenuates epileptic phenotype and increases survival in a mouse model of developmental and epileptic encephalopathy type 1

Epilepsia, EarlyView.
Abstract Objective Developmental and epileptic encephalopathy type 1 (DEE1) is a rare drug‐resistant pediatric epilepsy caused by trinucleotide repeat expansions in the X‐linked ARX gene, leading to elongation of the first polyalanine tract. It presents with early onset tonic seizures or spasms, developmental and cognition delay, and high risk of ...
Lucia Verrillo, Fabio Arturo Iannotti, Denise Drongitis, Katiuscia Martinello, Loredana Poeta, Adriano Barra, Gaetano Terrone, Sergio Fucile, Vincenzo Di Marzo, Maria Giuseppina Miano   +9 more
wiley   +1 more source

WONOEP XVII appraisal: Targeting network excitability beyond the synapse ‐Neurotransmitter, ionic, and electro ‐diffusions

Epilepsia, EarlyView.
Abstract Epilepsy affects approximately 1% of the population worldwide, and although medications are effective in the majority of cases, seizures persist in approximately 30% of patients. Despite the effort to develop new antiseizure drugs, the rate of pharmacoresistance in patients has not diminished over the past 3 decades. There is thus a real unmet
Vincent Magloire, Marco de Curtis, Jeffrey Noebels, Gilles Huberfeld, Piotr Suffczynski, Vadym Gnatkovsky, Olga Tyurikova, Dominique Durand, David C. Henshall, Cian McCafferty   +9 more
wiley   +1 more source

Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association [PDF]

, 1992
E. Steve Roach, Moyra Smith, Peter R. Huttenlocher, Mohandes Bhat, Deborah Alcorn, Louise A. Hawley   +5 more
openalex   +1 more source

Computed tomography of the equine caudal spine and pelvis: Technique, image quality and anatomical variation in 56 clinical cases (2018–2023)

Equine Veterinary Journal, EarlyView.
Abstract Background Cross‐sectional imaging improves the diagnostic accuracy of complex anatomical regions. Computed tomography (CT) of the pelvis and caudal spine in a large group of live horses and ponies has not been previously reported. Objective To describe the procedure for acquiring CT images of horses' caudal spine/pelvis under general ...
Nadine Kristina Elise Ogden, Katja Winderickx, Alison Bennell, John David Stack   +3 more
wiley   +1 more source

Computer simulation of linkage and heterogeneity in tuberous sclerosis: a critical evaluation of the collaborative family data. [PDF]

, 1992
L. A. J. JANSSEN, Lodewijk A. Sandkuijl, Julian R. Sampson, D. J. J. Halley   +3 more
openalex   +1 more source

Computed tomography of the equine caudal spine and pelvis. Pathological findings in 56 clinical cases (2018–2023)

Equine Veterinary Journal, EarlyView.
Abstract Background Computed tomography (CT) of the axial skeleton is increasing across many equine hospitals. CT of the pelvis and caudal spine in a large group of clinical cases has not been reported previously. Objective To describe the pathological lesions identified in the caudal spine/pelvis in horses and ponies undergoing CT spine of this region.
Nadine Kristina Elise Ogden, Katja Winderickx, John David Stack   +2 more
wiley   +1 more source

Congenital Circumscribed Hypomelanosis: A Characterization Based on Electron Microscopic Study of Tuberous Sclerosis, Nevus Depigmentosus, and Piebaldism

, 1975
Kowichi Jimbow, Thomas B. Fitzpatrick, George Szabó, Yoshiaki Hori   +3 more
openalex   +1 more source

Mapping of a gene determining tuberous sclerosis to human chromosome 11q1411q23 [PDF]

, 1990
Moyra Smith, Susan L. Smalley, R M Cantor, Massimo Pandolfo, Maximiliano Gómez, Russell E Baumann, Pamela Flodman, Kazuhiro Yoshiyama, Yusuke Nakamura, Cécile Julier, K. Dumars, J. L. Haines, James A. Trofatter, M.A. Spence, Daniel E. Weeks, M Conneally   +15 more
openalex   +1 more source

Ultrasonographic diagnosis of caudoproximal humeral stress fracture in thoroughbred racehorses

Equine Veterinary Journal, EarlyView.
Abstract Background Humeral stress fractures in racehorses can progress to catastrophic fracture if unrecognised. Scintigraphy is the gold standard diagnostic technique but is limited by accessibility and cost. It was hypothesised that ultrasonography could be used to visualise caudoproximal humeral stress fractures. Objectives To determine the utility
Betsy Vaughan, Erin R. McKerney, Carolyn Wollenberger, Ashton Cloninger, Mathieu Spriet, Larry Galuppo, Susan M. Stover   +6 more
wiley   +1 more source

Tuberous Sclerosis Complex

The Keio Journal of Medicine
Tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by systemic hamartomas, neuropsychiatric symptoms known as TAND (TSC-associated neuropsychiatric disorders), and vitiligo. These symptoms are attributed to the constant activation of mechanistic target of rapamycin complex 1 (mTORC1) caused by genetic mutations in
openaire   +4 more sources