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Register Our Patient Database

Registering with SLC1A4 will help to keep you up-to-date on the latest information regarding ongoing research.  Researchers have created a registry questionnaire for individuals with SLC1A4. The registry is an important tool to help researchers gain a better understanding of SLC1A4 syndrome and ultimately develop more effective treatment options. If you or your child has been diagnosed with SLC1A4, your participation […]

A novel SLC1A4 homozygous mutation causi...

A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography – case study

Biallelic mutations in the SLC1A4 gene have been identified as a very rare cause of neurodevelopmental disorders. l-serine transport deficiency has been regarded as the causal molecular mechanism underlying the neurological phenotype of SLC1A4 mutation patients. To date this genetic condition has been reported almost exclusively in a limited number of Ashkenazi-Jewish individuals and as […]

The Rise and Fall of the D-Serine-Mediat...

The Rise and Fall of the D-Serine-Mediated Gliotransmission Hypothesis

D-Serine modulates N-methyl D-aspartate receptors (NMDARs) and regulates synaptic plasticity, neurodevelopment, and learning and memory. However, the primary site of D-serine synthesis and release remains controversial, with some arguing that it is a gliotransmitter and others defining it as a neuronal cotransmitter. Results from several laboratories using different strategies now show that the biosynthetic enzyme […]

Novel European SLC1A4 variant: infantile...

Novel European SLC1A4 variant: infantile spasms and population ancestry analysis

SLC1A4 deficiency is a recently described neurodevelopmental disorder associated with microcephaly, global developmental delay, abnormal myelination, thin corpus callosum and seizures. It has been mainly reported in the Ashkenazi–Jewish populationwith affected individuals homozygous for the p.Glu256Lys variant. Exome sequencing performed in an Irish proband identified a novel homozygous nonsense SLC1A4 variant [p.Trp453*], confirming a second […]

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