Zobrazeno 1 - 10
of 236
pro vyhledávání: '"Guido, Rubboli"'
Autor:
Cathrine E. Gjerulfsen, Marina Nikanorova, Kern Olofsson, Cecilie Johannessen Landmark, Guido Rubboli, Rikke S. Møller
Publikováno v:
Epilepsia Open, Vol 9, Iss 5, Pp 1891-1900 (2024)
Abstract Objectives Dravet syndrome is a developmental and epileptic encephalopathy characterized by early onset epilepsy with multiple seizure types often intractable to treatment. Randomized clinical trials have demonstrated how treatment with fenf
Externí odkaz:
https://doaj.org/article/cd42356d77534386b3d379ea26529632
Autor:
Nazanin Azarinejad Mohammadi, Philip Kiær Ahring, Vivian Wan Yu Liao, Han Chow Chua, Sebastián Ortiz de la Rosa, Katrine Marie Johannesen, Yael Michaeli-Yossef, Aline Vincent-Devulder, Catherine Meridda, Ange-Line Bruel, Alessandra Rossi, Chirag Patel, Joerg Klepper, Paolo Bonanni, Sara Minghetti, Marina Trivisano, Nicola Specchio, David Amor, Stéphane Auvin, Sarah Baer, Pierre Meyer, Mathieu Milh, Vincenzo Salpietro, Reza Maroofian, Johannes R. Lemke, Sarah Weckhuysen, Palle Christophersen, Guido Rubboli, Mary Chebib, Anders A. Jensen, Nathan L. Absalom, Rikke Steensbjerre Møller
Publikováno v:
EBioMedicine, Vol 106, Iss , Pp 105236- (2024)
Summary: Background: Variants in GABRB2, encoding the β2 subunit of the γ-aminobutyric acid type A (GABAA) receptor, can result in a diverse range of conditions, ranging from febrile seizures to severe developmental and epileptic encephalopathies.
Externí odkaz:
https://doaj.org/article/1f75a6fe61cf4a01b76139af961cda76
Autor:
Delnaz Roshandel, Eric J. Sanders, Amy Shakeshaft, Naim Panjwani, Fan Lin, Amber Collingwood, Anna Hall, Katherine Keenan, Celine Deneubourg, Filippo Mirabella, Simon Topp, Jana Zarubova, Rhys H. Thomas, Inga Talvik, Marte Syvertsen, Pasquale Striano, Anna B. Smith, Kaja K. Selmer, Guido Rubboli, Alessandro Orsini, Ching Ching Ng, Rikke S. Møller, Kheng Seang Lim, Khalid Hamandi, David A. Greenberg, Joanna Gesche, Elena Gardella, Choong Yi Fong, Christoph P. Beier, Danielle M. Andrade, Heinz Jungbluth, Mark P. Richardson, Annalisa Pastore, Manolis Fanto, Deb K. Pal, Lisa J. Strug, the BIOJUME Consortium
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-11 (2023)
Abstract Elevated impulsivity is a key component of attention-deficit hyperactivity disorder (ADHD), bipolar disorder and juvenile myoclonic epilepsy (JME). We performed a genome-wide association, colocalization, polygenic risk score, and pathway ana
Externí odkaz:
https://doaj.org/article/0e53d73306e54af3ab1a73130ecdcc88
Autor:
Cathrine E. Gjerulfsen, Tomasz S. Mieszczanek, Katrine M. Johannesen, Vivian W. Y. Liao, Mary Chebib, Helene A. J. Nørby, Elena Gardella, Guido Rubboli, Philip Ahring, Rikke S. Møller
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 8, Pp 1493-1498 (2023)
Abstract Vinpocetine is a synthetic derivative of the alkaloid vincamine and has been used as a dietary supplement for decades. Following a positive report of the use of vinpocetine in a patient with a loss‐of‐function GABRB3 variant, we here des
Externí odkaz:
https://doaj.org/article/5392aaa6b2154442a398310acfa4e3b2
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
Externí odkaz:
https://doaj.org/article/1bcff17ea283413fac26e0b3d259c985
Autor:
Katrine M. Johannesen, Jimmi Nielsen, Anne Sabers, Bertrand Isidor, Anja A. Kattentidt-Mouravieva, Dominik Zieglgänsberger, Alexis R. Heidlebaugh, Kathryn F. Oetjens, Anna Abuli Vidal, Jakob Christensen, Jacob Tiller, Amber N. Freed, Rikke S. Møller, Guido Rubboli
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
IntroductionSLC6A1 is one of the most common monogenic causes of epilepsy and is a well-established cause of neurodevelopmental disorders. SLC6A1-neurodevelopmental disorders have a consistent phenotype of mild to severe intellectual disability (ID),
Externí odkaz:
https://doaj.org/article/9b772a0cf1ac4bf7a6f55e11c80726d3
Autor:
Benedetta Kassabian, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Rikke S. Møller, Katrine M. Johannesen, Guido Rubboli
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
Externí odkaz:
https://doaj.org/article/7533f9f845bf4c47b91866edd70387ed
Autor:
Benedetta Kassabian, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Rikke S. Møller, Katrine M. Johannesen, Guido Rubboli
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
IntroductionPhenotypic spectrum of SLC6A1-related neurodevelopmental disorders (SLC6A1-NDD) includes intellectual disability (ID), autistic spectrum disorders (ASD), epilepsy, developmental delay, beginning from early infancy or after seizure onset,
Externí odkaz:
https://doaj.org/article/b5e06920b7a34b5dbc7784d184b2df59
Autor:
Amy Shakeshaft, Naim Panjwani, Amber Collingwood, Holly Crudgington, Anna Hall, Danielle M. Andrade, Christoph P. Beier, Choong Yi Fong, Elena Gardella, Joanna Gesche, David A. Greenberg, Khalid Hamandi, Jeanette Koht, Kheng Seang Lim, Rikke S. Møller, Ching Ching Ng, Alessandro Orsini, Mark I. Rees, Guido Rubboli, Kaja K. Selmer, Pasquale Striano, Marte Syvertsen, Rhys H. Thomas, Jana Zarubova, Mark P. Richardson, Lisa J. Strug, Deb K. Pal
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)
Abstract Juvenile myoclonic epilepsy (JME) is a common idiopathic generalised epilepsy with variable seizure prognosis and sex differences in disease presentation. Here, we investigate the combined epidemiology of sex, seizure types and precipitants,
Externí odkaz:
https://doaj.org/article/ce5efddaacb740b59bf91b0f7940175e
Autor:
Grigori Y. Rychkov, Zeeshan Shaukat, Chiao Xin Lim, Rashid Hussain, Ben J. Roberts, Claudia M. Bonardi, Guido Rubboli, Brandon F. Meaney, Robyn Whitney, Rikke S. Møller, Michael G. Ricos, Leanne M. Dibbens
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 23, p 15133 (2022)
KCNT1 (K+ channel subfamily T member 1) is a sodium-activated potassium channel highly expressed in the nervous system which regulates neuronal excitability by contributing to the resting membrane potential and hyperpolarisation following a train of
Externí odkaz:
https://doaj.org/article/2310eae7d3cc43c4b5d2dddc20c641b2