present in Gene: GAD1
present in Chromosome: 2
Position on Chromosome: 170818626
Alleles of this Variant: C/G;T
rs121918345 in
GAD1 gene and
Cerebral Palsy, Spastic Quadriplegic, 1
PMID 15037681 2004 Practice parameter: diagnostic assessment of the child with cerebral palsy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.
PMID 15571623 2004 Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders.