Clinical experiment designed to assess clinical efficacy targeting GABRA1, GABRG2 in human patient. Primary outcome: clinical phenotype characterization
Clinical evaluation of a human patient with microdeletion of GABRA1 and GABRG2 genes presenting with intractable epilepsy and blindness due to optic atrophy. The study included electroencephalography recordings to characterize seizure activity and fundus photography to evaluate bilateral optic nerve atrophy. This represents the first reported case of haploinsufficiency of both GABR genes causing this phenotype combination.
Electroencephalography and fundus photography
Seizure activity and optic nerve abnormalities
Documentation of epilepsy and visual impairment
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