SLC6A1 Neurodevelopmental Disorder: A Case Report
Aims: Solute Carrier Family 6 member 1 (SLC6A1) genetic mutations are rare and mostly reported in the paediatric population. Few reports on adult cases have been mentioned in the literature. At present only pathological and likely pathological variants can confirm a diagnosis of SLC6A1-related neuro...
Saved in:
| Main Authors: | Nikita Pillay, Gurjot Brar, Niamh Mulryan |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Cambridge University Press
2025-06-01
|
| Series: | BJPsych Open |
| Online Access: | https://www.cambridge.org/core/product/identifier/S2056472425107576/type/journal_article |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunctionResearch in context
by: Peter Kovermann, et al.
Published: (2025-04-01) -
Missense variants in SLC9A6 cause partial epilepsy without neurodevelopmental delay
by: Jun-Ping Jiao, et al.
Published: (2025-07-01) -
Case Report: An adult with NCKAP1-related neurodevelopmental disorder and autism spectrum disorder
by: Aruna Jain, et al.
Published: (2025-06-01) -
PURA syndrome—a genetic cause of a neurodevelopmental disorder—case report
by: Jacek Kobak, et al.
Published: (2025-07-01) -
Potential role of SLC6A3 in neurodevelopmental impairments associated with corpus callosum abnormalities: insights from CNV analysis and clinical phenotyping
by: Shan-yu Liu, et al.
Published: (2025-08-01)