Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2‐Related Epilepsy
Sign Up to like & getrecommendations! Published in 2018 at "Neuropediatrics"
DOI: 10.1055/s-0037-1606370
Abstract: Abstract Recently, heterozygous de novo mutations in SCL1A2 have been reported to underlie severe early‐onset epileptic encephalopathy. In one male presenting with epileptic seizures and visual impairment, we identified a novel homozygous splicing variant in… read more here.
Keywords: biallelic mutations; mode inheritance; slc1a2 related;