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Article

Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy.

Neuropediatrics - 1 Feb 2018

Wagner Matias, Gusic Mirjana, Günthner Roman, Alhaddad Bader, Kovacs-Nagy Reka, Makowski Christine, Baumeister Friedrich, Strom Tim, Meitinger Thomas, Prokisch Holger, Wortmann Saskia B

Abstract excerpt

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 SCL1A2 (c.1421 + 1G > C) by using exome sequencing. Functional studies on cDNA level confirmed a consecutive loss of function. Our findings suggest that not only de...

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Identifiers

PMID: 28915517
DOI: 10.1055/s-0037-1606370

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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