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Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

Abstract:

We identified an autosomal recessive infantile-onset symptomatic epilepsy syndrome associated with developmental stagnation and blindness. Assuming a founder effect in a large Old Order Amish pedigree, we carried out a genome-wide screen for linkage and identified a single region of homozygosity on chromosome 2p12-p11.2 spanning 5.1 cM (maximum lod score of 6.84). We sequenced genes in the region and identified a nonsense mutation in SIAT9, which is predicted to result in the premature termin...

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Publication status:
Published

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Publisher copy:
10.1038/ng1460

Authors


Simpson, MA More by this author
Proukakis, C More by this author
Priestman, DA More by this author
Neville, DC More by this author
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Journal:
Nature genetics
Volume:
36
Issue:
11
Pages:
1225-1229
Publication date:
2004-11-05
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
URN:
uuid:bee5fcc0-cd6f-424f-8b60-c1384097ecc0
Source identifiers:
101002
Local pid:
pubs:101002

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