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 population
with 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 case of SLC1A4-associated infantile spasms. As
this is the first European identified, population ancestry analysis of the Exome Aggregation Consortium database was performed
to determine the wider ethnic background of SLC1A4 deficiency carriers. p.Glu256Lys was found in Hispanic and South Asian
populations. Other potential disease-causing variants were also identified. Investigation for SLC1A4 deficiency should be performed regardless of ethnicity and extend to include unexplained early-onset epileptic encephalopathy.
Journal of Human Genetics (2016) 61, 761–764; doi:10.1038/jhg.2016.44; published online 19 May 2016


https://www.nature.com/articles/jhg201644