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Title:

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

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
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:
1
Pages contribution:
59-62
Language:
eng
Fulltext / DOI:
doi:10.1055/s-0037-1606370
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/28915517
Print-ISSN:
0174-304X
TUM Institution:
Institut für Humangenetik; Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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