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Document type:
journal 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 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 (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 can cause epilepsy and that there is an additional...    »
 
Journal title abbreviation:
Neuropediatrics 
Year:
2018 
Journal volume:
49 
Journal issue:
Pages contribution:
59-62 
Language:
eng 
Print-ISSN:
0174-304X 
TUM Institution:
Klinik und Poliklinik für Kinder- und Jugendmedizin