Article
High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhood.
Neuropediatrics - 1 Feb 2011
van Maldegem B T, Kloosterman S F, Janssen W J, Augustijn P B, van der Lee J H, Ijlst L, Waterham H R, Duran R, Wanders R J A, Wijburg F A
Abstract excerpt
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of metabolism, most frequently associated with developmental delay and/or epilepsy. Most SCADD patients carry common SCAD-encoding gene ( ACADS) variants or these variants in combination with a rare ACADS mutation, in the Netherlands predominantly the c.1058C>T. Epilepsy in childhood often remains unexplained and patients...
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