Results 71 to 80 of about 34,220 (292)

Serum NfL, GFAP, and p‐tau217 in adults with drug‐resistant epilepsy and intellectual disabilities: Signs of ongoing neural injury

Epilepsia, EarlyView.
Abstract Objective Adults with epilepsy and intellectual disabilities (IDs) may be at increased risk of dementia, but clinical evaluation is complex and use of conventional biomarkers is often considered too invasive. We explored abnormality of serum neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), and phosphorylated tau‐217 (p ...
Hadassa Kwetsie, Inge M. W. Verberk, Jans S. van Ool, Anneke J. J. Rampen, Rebecca Z. Rousset, Nicole I. Wolf, Dederieke A. M. Maes‐Festen, Clara D. M. van Karnebeek, Charlotte E. Teunissen, Erik Boot, Agnies M. van Eeghen   +10 more
wiley   +1 more source

Tuberous Sclerosis: An Overview of All Aspects of the Disease Based On a Pediatric Case [PDF]

Iranian Journal of Neurosurgery, 2022
Background and Importance:Tuberous sclerosis, also known as Bourneville's disease is a rare autosomal dominant disease affecting multiple systems. In this case report, we emphasize the importance of clinical criteria instead of genetic analysis in ...
Tamajyoti Ghosh, Binoy Binoy K Singh
doaj  

The small molecule simufilam dose‐dependently attenuates the worsening of seizures in a mouse model of tuberous sclerosis complex

Epilepsia, EarlyView.
Abstract Objective Novel epilepsy treatments for patients with tuberous sclerosis complex (TSC) and focal cortical dysplasia type II (FCDII) are urgently needed. In these patients, mutations in the mechanistic target of rapamycin (mTOR) pathway genes lead to mTOR hyperactivity and focal cortical malformations that frequently cause intractable epilepsy ...
Branden Stansley, Md. Monirul Islam, Dean J. Aguiar, Zoë Fuchs, Mackenzie Catron, Stephen Morairty, Ying Yuan, Radleigh Santos, Jingguo Hou, Annelies de Kater, George B. Thornton, Angelique Bordey   +11 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

Pilot validation of the Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) checklist as a screening tool for neuropsychiatric manifestations

, 2014
Includes abstract.
Leclezio, Loren
core  

A consensus roadmap for post‐traumatic epilepsy: Clinical biomarkers, research priorities, policy barriers, and pathways to interventional trials

Epilepsia, EarlyView.
Abstract Understanding the mechanisms underlying post‐traumatic epilepsy (PTE) following traumatic brain injury (TBI), and developing strategies to prevent or modify its progression, has been the focus of large collaborative efforts within the epilepsy and TBI research communities for over a decade.
Elisa R. Zanier, Ilaria Lisi, Elaine K. O'Loughlin, Federico Moro, Edilberto Amorim, David L. Brody, Daniel J. Correa, Dominique Duncan, Pavel Klein, Firas H. Kobeissy, Wolfgang Löscher, Edward J. Needham, Asla Pitkänen, Mary Jo Pugh, Jack Somers, Annamaria Vezzani, Amy K. Wagner, Laura S. Lubbers, International Conference on PTE Attendees, Denes Agoston, Edilberto Amorim, Sneha Anand, Hibah Awwad, Ginevra Bayon, Naima Belhachemi, Akash Bera, Costanza Bertani, Guido Bertolini, David L. Brody, Serena Brusatori, Francesca Buffelli, Aurora Chiapperini, Mara Chioccola, Severn Churn, Daniel J. Correa, Ramon Diaz‐Arrastia, Chris Dulla, Dominique Duncan, Chiara Ferlito, Aristea Galanopoulou, Angela Galic, Heidi Matos Galicia, Bin Gu, William Haskins, Victoria Johnson, Nigel Jones, Lowie Joseph, Pavel Klein, Firas Kobaissy, Ilaria Lisi, David Loane, Luther Loose, Laura S. Lubbers, Wolfgang Löscher, Edoardo Mazzone, Melissa Miller, Federico Moro, Edward J. Needham, Irma Wati Ngadimon, Terence O’Brien, Elaine K. O’Loughlin, Asla Pitkanen, Mary Jo Pugh, Teresa Giovanna Ravizza, Giuseppe Remuzzi, Massimo Rizzi, Rossella Di Sapia, Tawfeeq Shekh‐Ahmad, Doug Smith, Jack Somers, Kevin Staley, Francesca Tribuzio, Alexandra Ulyanova, Gloria Vegliante, Annamaria Vezzani, Joost Wagenaar, Amy K. Wagner, Kevin W. Wang, Justin Weppner, Peter J. West, Karen Wilcox, John Wolf, Elisa R. Zanier   +82 more
wiley   +1 more source

Atypical Face Processing in Children With Tuberous Sclerosis Complex [PDF]

, 2013
There is a high incidence of autism in tuberous sclerosis complex. Given the evidence of impaired face processing in autism, the authors sought to investigate electrophysiological markers of face processing in children with tuberous sclerosis complex ...
Jeste, Shafali Spurling, Norona, Amanda, Prabhu, Sanjay P, Navalta, Mary-Clare, Nelson, Charles A, Hirsch, Suzanna, Vogel-Farley, Vanessa, Gregas, Matt C, Sahin, Mustafa   +8 more
core   +1 more source

Stereo‐electroencephalography–guided cross‐electrode radiofrequency thermocoagulation in focal epilepsy: A review of current methodologies and outcomes

Epilepsia, EarlyView.
Abstract Advances in stereo‐electroencephalography–guided radiofrequency thermocoagulation (SEEG‐guided RFTC) have led to the development of cross‐electrode RFTC, which has been shown to result in significantly larger lesions and higher seizure‐freedom rates compared to standard RFTC methods.
Bethany Campbell, Andrew Neal, Emily Cockle, Genevieve Rayner, Rubina Alpitsis, Eliza Blomfield, Terence J. O'Brien, Matthew Gutman, Joshua Laing, Martin Hunn, Alissandra McIlroy   +10 more
wiley   +1 more source

Aggressive retinal astrocytoma associated with tuberous sclerosis

, 2012
Machiko Tomida,1 Yoshinori Mitamura,1 Takashi Katome,1 Hiroshi Eguchi,1 Takeshi Naito,1 Takayuki Harada21Department of Ophthalmology, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, 2Visual Research Project, Tokyo
Eguchi H, Harada T, Katome T, Mitamura Y, Tomida M, Naito T   +5 more
core  

TSC2 (tuberous sclerosis 2) [PDF]

, 2002
Review on TSC2 (tuberous sclerosis 2), with data on DNA, on the protein encoded, and where the gene is ...
Petri, Henske E, Astrinidis, A
core   +1 more source