Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Anna Abulí Vidal"'
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:
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