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Biallelic mutations in SLC1A2; an additional mode of inheritance for SLC1A2-related epilepsy.
Neuropediatrics 49, 59-62 (2018)
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 novo mutations but also biallelic variants in SLC1A2 can cause epilepsy and that there is an additional autosomal recessive mode of inheritance. These findings also contribute to the understanding of the genetic mechanism of autosomal dominant SLC1A2-related epileptic encephalopathy as they exclude haploinsufficiency as exclusive genetic mechanism.
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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
Epilepsy ; Seizure ; Visual Impairment ; Slc1a2 ; Exome Sequencing; Glutamate Transporter Glt-1; Diagnosis; Disorders
ISSN (print) / ISBN
0174-304X
e-ISSN
1439-1899
Zeitschrift
Neuropediatrics
Quellenangaben
Band: 49,
Heft: 1,
Seiten: 59-62
Verlag
Thieme
Verlagsort
Stuttgart
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Human Genetics (IHG)