Insights into cognitive and behavioral comorbidities of SLC6A1-related epilepsy: five new cases and literature review

IntroductionSLC6A1 pathogenic variants have been associated with epilepsy and neurodevelopmental disorders. The clinical phenotype includes different seizure types, intellectual disability, and psychiatric symptoms affecting mood and behavior. Few data regarding neuropsychological features have been...

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Hlavní autoři:	Marina Trivisano, Ambra Butera, Chiara Quintavalle, Angela De Dominicis, Costanza Calabrese, Simona Cappelletti, Federico Vigevano, Antonio Novelli, Nicola Specchio
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2023-08-01
Edice:	Frontiers in Neuroscience
Témata:	SLC6A1 genetic epilepsy developmental and epileptic encephalopathy neuropsychological features autism spectrum disorder
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fnins.2023.1215684/full
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