Zobrazeno 1 - 10
of 146
pro vyhledávání: '"Dennis Lal"'
Autor:
Jonas Honke, Lucas Hoffmann, Roland Coras, Katja Kobow, Costin Leu, Tom Pieper, Till Hartlieb, Christian G. Bien, Friedrich Woermann, Thomas Cloppenborg, Thilo Kalbhenn, Ahmed Gaballa, Hajo Hamer, Sebastian Brandner, Karl Rössler, Arnd Dörfler, Stefan Rampp, Johannes R. Lemke, Sara Baldassari, Stéphanie Baulac, Dennis Lal, Peter Nürnberg, Ingmar Blümcke
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-11 (2023)
Abstract Focal cortical dysplasia type II (FCDII) is the most common cause of drug-resistant focal epilepsy in children. Herein, we performed a deep histopathology-based genotype–phenotype analysis to further elucidate the clinico-pathological and
Externí odkaz:
https://doaj.org/article/4bef610997d24176a5d187b82505fdf0
Autor:
Ludovica Montanucci, David Lewis-Smith, Ryan L. Collins, Lisa-Marie Niestroj, Shridhar Parthasarathy, Julie Xian, Shiva Ganesan, Marie Macnee, Tobias Brünger, Rhys H. Thomas, Michael Talkowski, Epi25 Collaborative, Ingo Helbig, Costin Leu, Dennis Lal
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
Abstract Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizur
Externí odkaz:
https://doaj.org/article/5f673f8d63e1481fb289b59e8453a1ee
Autor:
Alina Ivaniuk, Christian M. Boßelmann, Xiaoming Zhang, Mark St. John, Sara C. Taylor, Gokul Krishnaswamy, Alex Milinovich, Peter F. Aziz, Elia Pestana-Knight, Dennis Lal
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100842- (2024)
Purpose: CDKL5 deficiency disorder (CDD) is a developmental and epileptic encephalopathy with multisystemic comorbidities. Cardiovascular involvement in CDD was shown in animal models but is yet poorly described in CDD cohorts. Methods: We identified
Externí odkaz:
https://doaj.org/article/974e6717b8404f0fb9866109a8c3d285
Autor:
Emile Moura Coelho da Silva, Alina Ivaniuk, Emily Huth, Costin Leu, Oscar Mancera, Omolara Kolawole, Matthew Wright, Ian Butler, Pauline Filipek, Jeremy Lankford, Michael Watkins, Elia Pestana Knight, Samden Lhatoo, Gretchen Von Allmen, Dennis Lal
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101050- (2024)
Externí odkaz:
https://doaj.org/article/accc99b26ec04be98cffea9a8894958d
Autor:
Emily Huth, Ludovica Montanucci, Tobias Bruenger, Costin Leu, Gary Taylor, Emile Moura Coelho da Silva, Oscar Mancera, Omolara Kolawole, Matthew Wright, Samden Lhatoo, Gretchen Von Allmen, Dennis Lal
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101248- (2024)
Externí odkaz:
https://doaj.org/article/417917ed69474f8ea5e6328d89d346ec
Publikováno v:
Neurobiology of Disease, Vol 184, Iss , Pp 106208- (2023)
Lesional epilepsy is a common and severe disease commonly associated with malformations of cortical development, including focal cortical dysplasia and hemimegalencephaly. Recent advances in sequencing and variant calling technologies have identified
Externí odkaz:
https://doaj.org/article/1f7f0cbab0874fc2a02a82f0f03523bd
Autor:
Juan Lorenzo B. Pablo, Savannah L. Cornett, Lei A. Wang, Sooyeon Jo, Tobias Brünger, Nikita Budnik, Mudra Hegde, Jean-Marc DeKeyser, Christopher H. Thompson, John G. Doench, Dennis Lal, Alfred L. George, Jr., Jen Q. Pan
Publikováno v:
Cell Reports, Vol 42, Iss 6, Pp 112563- (2023)
Summary: It is challenging to apply traditional mutational scanning to voltage-gated sodium channels (NaVs) and functionally annotate the large number of coding variants in these genes. Using a cytosine base editor and a pooled viability assay, we sc
Externí odkaz:
https://doaj.org/article/a26ee4757b7c41068a33d54562302016
P369: SATB2-associated syndrome severity score: Genotype/phenotype correlations and the SATB2 portal
Autor:
Yuri Zarate, Katherine Bosanko, Amrit Kannan, Ashlen Thomason, Beth Nutt, Nihit Kumar, Kirk Simmons, Aaron Hiegert, Larry Hartzell, Adam Johnson, Tabitha Prater, Jillian Kimberlain, Aisling Caffrey, Arthur Stefanski, Tobias Brünger, Eduardo Pérez-Palma, Dennis Lal
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100397- (2023)
Externí odkaz:
https://doaj.org/article/ebdcc18695e54f99ad43a5293f318bf5
Autor:
Shreya Louis, Robyn M. Busch, Dennis Lal, Jennifer Hockings, Olivia Hogue, Marcia Morita-Sherman, Deborah Vegh, Imad Najm, Chaitali Ghosh, Peter Bazeley, Charis Eng, Lara Jehi, Daniel M. Rotroff
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
ObjectiveSeizure outcomes after brain surgery for drug-resistant epilepsy (DRE) are very heterogeneous and difficult to predict with models utilizing the current clinical, imaging, and electrophysiological variables. In this pilot study, we investiga
Externí odkaz:
https://doaj.org/article/0923aa6f1e3e456bb3380cdefb1c553a
Autor:
Ciarán Campbell, Costin Leu, Yen-Chen Anne Feng, Stefan Wolking, Claudia Moreau, Colin Ellis, Shiva Ganesan, Helena Martins, Karen Oliver, Isabelle Boothman, Katherine Benson, Anne Molloy, Lawrence Brody, Jacques L. Michaud, Fadi F. Hamdan, Berge A. Minassian, Holger Lerche, Ingrid E. Scheffer, Sanjay Sisodiya, Simon Girard, Patrick Cosette, Norman Delanty, Dennis Lal, Gianpiero L. Cavalleri
Publikováno v:
EBioMedicine, Vol 81, Iss , Pp 104098- (2022)
Summary: Background: The developmental and epileptic encephalopathies (DEEs) are the most severe group of epilepsies which co-present with developmental delay and intellectual disability (ID). DEEs usually occur in people without a family history of
Externí odkaz:
https://doaj.org/article/533a6eda95d24053b4f85652d7d21d32