Clinical characteristics
SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) is characterized by these findings:
• Mild-to-severe developmental delay (DD) and/or intellectual disability (ID)
• Generalized hypotonia of infancy
• Epilepsy including absence or atypical absence seizures, epilepsy with myoclonic-atonic seizures, generalized tonic-clonic seizures
• Movement disorders such as tremor, stereotypies, and ataxia
• Autism spectrum disorder, attention-deficit/hyperactivity disorder, aggression, anxiety, and/or sleep disturbances
Molecular characteristics
SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) is an autosomal dominant disorder typically caused by a de novo pathogenic variant.
Genetic Counselling
If the variant is de novo, recurrence risk is low.
If the variant is inherited, the recurrence risk is 50%. Intrafamilial variability is well-known
Management
Treatment is symptomatic and multidisciplinary.
SLC6A1