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Titel:

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

Dokumenttyp:
Case Reports; Journal Article; Article
Autor(en):
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...     »
Zeitschriftentitel:
Neuropediatrics
Jahr:
2018
Band / Volume:
49
Heft / Issue:
1
Seitenangaben Beitrag:
59-62
Sprache:
eng
Volltext / DOI:
doi:10.1055/s-0037-1606370
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/28915517
Print-ISSN:
0174-304X
TUM Einrichtung:
Institut für Humangenetik; Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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