Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Kathleen M, Gorman"'
Publikováno v:
Epilepsy & Behavior Reports, Vol 25, Iss , Pp 100647- (2024)
KBG syndrome is characterised by developmental delay, dental (macrodontia of upper central incisors), craniofacial and skeletal anomalies. Since the identification of variants in the gene (ANKRD11) responsible for KBG syndrome, wider phenotypes are e
Externí odkaz:
https://doaj.org/article/1497e9a6e58445899901e4e3631a7e3b
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/4c964724cb254384bdcea7229b0ed996
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Paroxysmal movement disorders (PxMDs) are a clinical and genetically heterogeneous group of movement disorders characterized by episodic involuntary movements (dystonia, dyskinesia, chorea and/or ataxia). Historically, PxMDs were classified clinicall
Externí odkaz:
https://doaj.org/article/51376402139c43eba1f2a4cb3676b11b
Autor:
Alessia Arbini, James Gilmore, Mary D. King, Kathleen M. Gorman, Janusz Krawczyk, Veronica McInerney, Timothy O'Brien, Sanbing Shen, Nicholas M. Allen
Publikováno v:
Stem Cell Research, Vol 46, Iss , Pp 101853- (2020)
De novo pathogenic variants in KCNA2 are implicated in causing a spectrum of human neurological disorders, in particular developmental and epileptic encephalopathies. KCNA2 encodes the voltage-gated delayed rectifier potassium channel Kv1.2, which is
Externí odkaz:
https://doaj.org/article/c4ca157931014b44bd20b9cee5fada78
Autor:
Johannes Luppe, Heinrich Sticht, François Lecoquierre, Alice Goldenberg, Kathleen M. Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Sophie Julia, Johannes R. Lemke, Rami Abou Jamra, Konrad Platzer
Publikováno v:
European Journal of Human Genetics, 31, 3, pp. 345-352
European Journal of Human Genetics, 31, 345-352
European Journal of Human Genetics, 31, 345-352
The neuronal SNARE complex drives synaptic vesicle exocytosis. Therefore, one of its core proteins syntaxin 1A (STX1A) has long been suspected to play a role in neurodevelopmental disorders. We assembled eight individuals harboring ultra rare variant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18a3345ffca1ec0467d702f7f8c63fd5
https://doi.org/10.1038/s41431-022-01269-6
https://doi.org/10.1038/s41431-022-01269-6
Autor:
Hannah C. Happ, Lynette G. Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S. Hildebrand, Allyn McConkie-Rosell, Marie McDonald, Halie May, Tristan Sands, Vimla Aggarwal, Christopher Elder, Timothy Feyma, Allan Bayat, Rikke S. Møller, Christina D. Fenger, Jens Erik Klint Nielsen, Anita N. Datta, Kathleen M. Gorman, Mary D. King, Natalia D. Linhares, Barbara K. Burton, Andrea Paras, Sian Ellard, Julia Rankin, Anju Shukla, Purvi Majethia, Rory J. Olson, Karthik Muthusamy, Lisa A. Schimmenti, Keith Starnes, Lucie Sedláčková, Katalin Štěrbová, Markéta Vlčková, Petra Laššuthová, Alena Jahodová, Brenda E. Porter, Nathalie Couque, Estelle Colin, Clément Prouteau, Corinne Collet, Thomas Smol, Roseline Caumes, Fleur Vansenne, Francesca Bisulli, Laura Licchetta, Richard Person, Erin Torti, Kirsty McWalter, Richard Webster, Elizabeth E. Gerard, Gaetan Lesca, Pierre Szepetowski, Ingrid E. Scheffer, Heather C. Mefford, Gemma L. Carvill
Publikováno v:
Neurology
Neurology, 2023, 100 (6), pp.e603-e615. ⟨10.1212/WNL.0000000000201492⟩
Neurology, 2023, 100 (6), pp.e603-e615. ⟨10.1212/WNL.0000000000201492⟩
Background and ObjectivesKCNH5encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novoKCNH5variants.MethodsWe screened 893 individuals with developm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b0b2b7f5942fbcfd8d506aab27f2811
https://doi.org/10.1212/wnl.0000000000201492
https://doi.org/10.1212/wnl.0000000000201492
Autor:
Dermot Michael Wildes, Caoimhe S Costigan, Mairead Kinlough, Joan Flynn, Niamh Dolan, Michael Riordan, Clodagh Sweeney, Maria Stack, Mary Waldron, Orla Walsh, Kathleen M Gorman, Atif Awan
Publikováno v:
Nephrology Dialysis Transplantation. 38:49-55
BackgroundAdolescence is a time of significant change for patients, guardians and clinicians. The paediatrician must ensure patients develop the necessary skills and knowledge required to transition and to function as an independent entity, with auto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b76b3c6eae7d9f52c5f09da4dede0f88
https://doi.org/10.1093/ndt/gfac175
https://doi.org/10.1093/ndt/gfac175
Autor:
Susan, Harvey, Nicholas M, Allen, Mary D, King, Bryan, Lynch, Sally A, Lynch, Mary, O'Regan, Declan, O'Rourke, Amre, Shahwan, David, Webb, Kathleen M, Gorman, S, Tirupathi
Publikováno v:
Developmental Medicine & Child Neurology. 64:780-788
To estimate the prevalence, and evaluate presentation, treatment response, treatment side effects, and long-term seizure outcomes in all known cases of children with Down syndrome and infantile spasms on the island of Ireland.This was a 10-year retro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41c3c2b61cf37bf91e57d99e60366b30
https://doi.org/10.1111/dmcn.15153
https://doi.org/10.1111/dmcn.15153
Autism spectrum disorder (ASD) is a common neurodevelopmental condition. The American Academy of Paediatrics and American Academy of Neurology do not recommend routine brain magnetic resonance imaging (MRI) in the assessment of ASD. The need for a br
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::27b0bcedb6f35d78af56958b2baa81df
https://doi.org/10.21203/rs.3.rs-2294626/v1
https://doi.org/10.21203/rs.3.rs-2294626/v1
Autor:
Hannah C. Happ, Lynette G. Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S. Hildebrand, Allyn McConkie-Rosell, Marie McDonald, Halie May, Tristan Sands, Vimla Aggarwal, Christopher Elder, Timothy Feyma, Allan Bayat, Rikke S. Møller, Christina D. Fenger, Jens Erik Klint Nielsen, Anita N. Datta, Kathleen M. Gorman, Mary D. King, Natalia Linhares, Barbara K. Burton, Andrea Paras, Sian Ellard, Julia Rankin, Anju Shukla, Purvi Majethia, Rory J. Olson, Karthik Muthusamy, Lisa A Schimmenti, Keith Starnes, Lucie Sedláčková, Katalin Štěrbová, Markéta Vlčková, Petra Laššuthová, Alena Jahodová, Brenda E. Porter, Nathalie Couque, Estelle Colin, Clément Prouteau, Corinne Collet, Thomas Smol, Roseline Caumes, Fleur Vansenne, Francesca Bisulli, Laura Licchetta, Richard Person, Erin Torti, Kirsty McWalter, Richard Webster, Gaetan Lesca, Pierre Szepetowski, Ingrid E. Scheffer, Heather C. Mefford, Gemma L. Carvill
ObjectiveKCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novo KCNH5 variants.MethodsWe screened 893 individuals with developmental and epi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2fb9401b8e581a3f6ee5547c636a436
https://hal.archives-ouvertes.fr/hal-03817762
https://hal.archives-ouvertes.fr/hal-03817762