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

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

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...

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Hlavní autoři: Simpson, M, Cross, H, Proukakis, C, Priestman, D, Neville, D, Reinkensmeier, G, Wang, H, Wiznitzer, M, Gurtz, K, Verganelaki, A, Pryde, A, Patton, M, Dwek, R, Butters, T, Platt, F, Crosby, A
Médium: Journal article
Jazyk:English
Vydáno: 2004

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