The authors report this variant has decreased GABA-A receptor current amplitudes and link it to causing susceptibility to epilepsy.
They screened a combined total of 203 patients (72 with idiopathic epilepsy, 65 with generalized epilepsy with febrile seizures, and 66 with febrile seizures) and report finding the mutation in a single family (heterozygously in the proband) with juvenile myoclonic epilepsy. The variant is homozygous in an affected parent and heterozygous in two affected children, but neither grandparent (parents of the affected parent, necessarily both heterozygous or homozygous carriers themselves) are affected. The authors do not report a LOD score, and penetrance is presumably incomplete according to their pathogenic hypothesis. The variant was not seen in 96 unaffected controls.
Neither familiar data nor case control numbers have statistical significance for this report.