67-kDa isoform of glutamic acid decarboxylase(GAD67)

 Born at Expected frequency
 Severe Cleft Palate
 Reduction of glutamic acid decarboxylase (GAD) to 20% in cerebral cortex
 Reduction of gamma-aminobutyric acid (GABA) to 7% in cerebral cortex
 Death on first morning after birth

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MEDLINE Citations