Results 121 to 130 of about 42,064 (302)

An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito [PDF]

, 2000
Bert H.J. Eussen
openalex   +1 more source

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals

Epilepsia, EarlyView.
Abstract Objective A large proportion of pediatric epilepsies have an underlying genetic etiology. Limited studies have explored the efficacy of whole genome sequencing (WGS) in a clinical setting. Our academic–clinical center implemented clinical whole exome sequencing (WES) in 2014, then transitioned to WGS from 2015.
Olivia J. Henry, Sofia Ygberg, Michela Barbaro, Nicole Lesko, Leif Karlsson, Lucía Peña‐Pérez, Ann Båvner, Virpi Töhönen, Anna Lindstrand, Tommy Stödberg, Anna Wedell   +10 more
wiley   +1 more source

Hamartomas of the Iris and Ciliary Epithelium in Tuberous Sclerosis Complex [PDF]

, 2000
Ralph C. Eagle
openalex   +1 more source

Patterns of phosphorylated tau accumulation in a spectrum of acquired and developmental brain lesions associated with refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Phosphorylated tau (pTau) has been reported in surgical resections in refractory epilepsy. It is unclear whether this is activity‐driven physiological pTau or signifies the advent of neurodegenerative cascades, relevant to memory decline.
Alicja Mrzyglod, Anya Mebrouk, Joanna Bartkiewicz, Hanaa El Hachami, Maritchka Ryniejska, Jane de Tisi, Roland Coras, Ingmar Blumcke, Fenglai Xiao, Anna Miserocchi, Andrew McEvoy, Matthias Koepp, Joan Liu, Maria Thom   +13 more
wiley   +1 more source

Renal angiomyolipomata and learning difficulty in tuberous sclerosis complex [PDF]

, 2000
Finbar O’Callaghan
openalex   +1 more source

Impact of epilepsy surgery on the adaptive behavior of children with drug‐resistant epilepsy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to assess the impact of surgical treatment on the adaptive abilities of children with drug‐resistant epilepsy (DRE) and moderate or severe developmental delays, and to identify factors that could potentially predict adaptive outcomes following epilepsy surgery.
Ana Valeria Duarte Oliveira, Hélio Rubens Machado, Úrsula Thomé, Marcelo Volpon Santos, Geisa de Angelis, João Pereira Leite, Antonio Carlos dos Santos, Lauro Wichert‐Ana, Ana Paula Hamad, Américo Ceiki Sakamoto, Tonicarlo Rodrigues Velasco   +10 more
wiley   +1 more source

Tuberous Sclerosis Complex with an Unruptured Intracranial Aneurysm: Manifestations of Contiguous Gene Syndrome [PDF]

, 2001
Y.L. Chen, Chao‐Bao Luo, S.W. Hsu, G. Rodesch, P. Lasjaunias   +4 more
openalex   +1 more source

Towards the phenotyping of autism spectrum disorder in children with tuberous sclerosis complex

Developmental Medicine &Child Neurology, EarlyView.
Ilaria Bonemazzi, Caterina Ancora, Veronica Ferasin, Marco Lunghi, Irene Toldo   +4 more
wiley   +1 more source

Comparison of children and adults undergoing subdural grid electrode implantation or stereoelectroencephalography in a refractory epilepsy cohort from four European centers

Epilepsia, EarlyView.
Abstract Objective Children with refractory focal epilepsy differ from adults, although many centers will offer invasive electroencephalography (iEEG) to both. Outcomes in terms of likelihood of resection and subsequent seizure outcome after either subdural grid electrode implantation (SDE) or stereoelectroencephalography (SEEG) have, however, not been
Matea Rados, Shanice Beerepoot, Martin M. Tisdall, Ronit M. Pressler, J. Helen Cross, Rachel C. Thornton, Beate Diehl, Andrew W. McEvoy, Anna Miserocchi, Josemir W. Sander, John S. Duncan, Jane de Tisi, Francesco Cardinale, Laura Tassi, Giorgio Lo Russo, Stefano Francione, Herm J. Lamberink, Frans S. S. Leijten, Willem M. Otte, Sandra M. A. van der Salm, Kees P. J. Braun, Pieter van Eijsden   +21 more
wiley   +1 more source

The Drosophila Tuberous Sclerosis Complex Gene Homologs Restrict Cell Growth and Cell Proliferation [PDF]

, 2001
Nicolas Tapon, Naoto Ito, Barry J. Dickson, Jessica E. Treisman, Iswar K. Hariharan   +4 more
openalex   +1 more source