What is SLC6A1 Neurodevelopmental Disorder?
What is SLC6A1 Neurodevelopmental Disorder?
Cause
SLC6A1 neurodevelopmental disorder is a genetic condition resulting from mutations in the SLC6A1 gene. This gene encodes a protein known as GAT-1 (gamma-aminobutyric acid transporter 1), which plays a vital role in regulating the levels of the neurotransmitter gamma-aminobutyric acid (GABA) in the brain.
When the SLC6A1 gene is affected by mutations, it disrupts the normal functioning of the GAT-1 protein, leading to decreased GABA reuptake by inhibitory neurons. GABA is the primary inhibitory neurotransmitter in the brain, and its release by inhibitory neurons plays a crucial role in maintaining a delicate balance in neuronal signalling.
The balance between excitatory and inhibitory neurotransmission is essential for proper brain function. Disruptions in this balance can lead to epilepsy and other neuropsychiatric conditions.
Symptoms
SLC6A1 neurodevelopmental disorder is an “epileptic encephalopathy”. Epileptic encephalopathies are severe epileptic disorders in which the epileptic activity itself contributes to progressive cognitive and developmental impairments. Recurrent seizures and abnormal electrical activity in the brain actively interfere with neurological development, resulting in intellectual disability, developmental delay – often with a regressive pattern of development where children lose abilities they once had – and other neurological and behavioural challenges.
Some children with SLC6A1 neurodevelopmental disorder are at risk of Sudden Unexpected Death in Epilepsy (SUDEP).
SLC6A1 neurodevelopmental disorder is a debilitating disease that typically causes the following symptoms:
Severely affected children face a bleak future without a cure: they will never live independently, requiring constant 24/7 direct care and supervision for the rest of their lives. Extensive supports are needed with every aspect of daily life. They cannot communicate even their most basic needs and wants.
