Results 131 to 140 of about 42,064 (302)

Identifying Determinants for Neurobehavioral Morbidity in Tuberous Sclerosis Complex [PDF]

, 2013
Tuberous Sclerosis Complex (TSC) is a multisystem disorder characterized by the growth of hamartomas in multiple organ systems. The syndrome was described as early as 1835 by Rayer, and later by von Recklinghousen.
Eeghen, A.M. (Agnies) van
core  

Long‐term efficacy and safety of cannabidiol in patients with treatment‐resistant focal epilepsies treated in the Expanded Access Program

Epilepsia, EarlyView.
Open‐label CBD treatment was associated with sustained seizure reduction through 144 weeks, with a consistent safety profile in patients with treatment‐resistant focal epilepsies, regardless of epilepsy type. Abstract Objective Cannabidiol (CBD) treatment was associated with long‐term seizure reduction in patients with various treatment‐resistant ...
Anup D. Patel, Jerzy P. Szaflarski, Paul D. Lyons, Michael Boffa, Teresa Greco, Timothy B. Saurer, Karthik Rajasekaran, Kelly C. Simontacchi, Elizabeth A. Thiele   +8 more
wiley   +1 more source

Giant Retinal Astrocytoma: A Case Report of an Uncommon Presentation of Tuberous Sclerosis in a Young Female

Case Reports in Neurological Medicine
Tuberous sclerosis (TS) is a rare multisystem autosomal dominant genetic disorder with characteristic pathognomonic genetic mutations involving the TSC (tuberous sclerosis complex) group of genes.
Keval Thakkar, Fnu Raveena, Aakash Kumar, Doongro Mal, Dileep Kumar, Neha Ahuja, Rahul Mandhan, Aqsa Baig, Manjeet Singh, Heeya Shah, Taha Sajjad, Mansi Singh   +11 more
doaj   +1 more source

Survey of Somatic Mutations in Tuberous Sclerosis Complex (TSC) Hamartomas Suggests Different Genetic Mechanisms for Pathogenesis of TSC Lesions [PDF]

, 2001
Yo Niida, Anat Stemmer‐Rachamimov, Marian L. Logrip, Dagmar Tapon, Ronald A. Perez, David J. Kwiatkowski, Katherine B. Sims, Mia MacCollin, David N. Louis, Vijaya Ramesh   +9 more
openalex   +1 more source

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

Differential Cellular Expression of Neurotrophins in Cortical Tubers of the Tuberous Sclerosis Complex [PDF]

, 2001
Robin Kyin, Yue Hua, Marianna Baybis, Bernd W. Scheithauer, Dennis L. Kolson, Erik J. Uhlmann, David H. Gutmann, Peter B. Crino   +7 more
openalex   +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

Tuberous sclerosis complex tumor suppressor–mediated S6 kinase inhibition by phosphatidylinositide-3-OH kinase is mTOR independent [PDF]

, 2002
Anja Jaeschke, Jörg Hartkamp, Masao Saitoh, Wendy Wassyng Roworth, Takahiro Nobukuni, Angela Hodges, Julian R. Sampson, George Thomas, Richard F. Lamb   +8 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

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