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Document type:
Case Reports; Journal Article; Article 
Author(s):
Wagner, Matias; Gusic, Mirjana; Günthner, Roman; Alhaddad, Bader; Kovacs-Nagy, Reka; Makowski, Christine; Baumeister, Friedrich; Strom, Tim; Meitinger, Thomas; Prokisch, Holger; Wortmann, Saskia B 
Title:
Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy. 
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 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 ther...    »
 
Journal title abbreviation:
Neuropediatrics 
Year:
2018 
Journal volume:
49 
Journal issue:
Pages contribution:
59-62 
Language:
eng 
Fulltext / DOI:
Print-ISSN:
0174-304X 
TUM Institution:
Institut für Humangenetik; Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin