Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder

Luigi M Romito^{1

2}, Fabiana Colucci^{1

3}, Valentina Leta^{1

4}, Celeste Panteghini⁵, Roberta Telese^{1

6}, Gianluca Tolva⁷, Roberta Villa⁷, Antonio E Elia¹, Roberto Eleopra¹, Angela Peron⁸, Barbara Garavaglia⁵, Maria Iascone⁹

Affiliations

¹ Parkinson and Movement Disorders Unit, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
² Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.
³ Department of Neuroscience and Rehabilitation, University of Ferrara, Ferrara, Italy.
⁴ Parkinson's Centre of Excellence at King's College Hospital and King's College London, London, UK.
⁵ Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
⁶ Department of Neuroscience, Università Degli Studi di Milano-Bicocca, Milan, Italy.
⁷ Medical Genetics Unit, ASST Santi Paolo e Carlo, Milan, Italy.
⁸ Division of Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy and Department of Clinical and Experimental Biomedical Sciences "Mario Serio", Università degli Studi di Firenze, Florence, Italy.
⁹ Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.

Luigi M Romito et al. Mov Disord Clin Pract. 2025 Feb.

. 2025 Feb;12(2):239-241.

doi: 10.1002/mdc3.14246. Epub 2024 Oct 24.

¹ Parkinson and Movement Disorders Unit, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
² Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.
³ Department of Neuroscience and Rehabilitation, University of Ferrara, Ferrara, Italy.
⁴ Parkinson's Centre of Excellence at King's College Hospital and King's College London, London, UK.
⁵ Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
⁶ Department of Neuroscience, Università Degli Studi di Milano-Bicocca, Milan, Italy.
⁷ Medical Genetics Unit, ASST Santi Paolo e Carlo, Milan, Italy.
⁸ Division of Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy and Department of Clinical and Experimental Biomedical Sciences "Mario Serio", Università degli Studi di Firenze, Florence, Italy.
⁹ Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.

No abstract available

Keywords: SLC6A1; autism; dystonia; epilepsy; sensory trick.

References

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