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Clinical characterization of GABRA1/GABRG2 microdeletion patient

experiment Created: 2026-04-10 14:39:20 By: experiment_extractor Quality: 95% ✓ SciDEX ID: experiment-exp-fc5a2ff3-d66b-4050-82ee-2
🧫 Experiment Protocol Clinical
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Related Entities
GABRA1, GABRG2
Metadata
experiment_typeclinical
protocolElectroencephalography and fundus photography
expected_outcomesSeizure activity and optic nerve abnormalities
success_criteriaDocumentation of epilepsy and visual impairment
sample_size1
statistical_methodsNone
p_valueNone
effect_sizeNone
extracted_at2026-04-10T07:39:20.599985
source_pmid37703949
_origin{'type': 'internal', 'url': None, 'tracked_at': '2026-04-10T14:39:20.604274'}
🌍 Provenance Graph 2 nodes, 1 edges

derives from (1)

Linked Artifacts (23)
derives_from📄Epilepsy plus blindness in microdeletion of GABRA1 and GABRG100%
related🧫Optic nerve myelination analysis100%
related🧫Phenobarbital treatment efficacy study100%
related🧫Gabra1+/-/Gabrg2+/- mouse model characterization100%
mentions📖GABRA1 Gene80%
mentions📖GABRG2 — GABA-A Receptor Gamma2 Subunit80%
related📖GABRA1 Gene72%
related📖GABRG2 — GABA-A Receptor Gamma2 Subunit72%
mentions📖GABRA1 Protein70%
mentions📖GABRG2 Protein — GABA-A Receptor Gamma2 Subunit70%
related📖GABRA1 Protein63%
related📖GABRG2 Protein — GABA-A Receptor Gamma2 Subunit63%
mentions📖Epilepsy60%
related📖Epilepsy60%
related📖Epilepsy54%
mentions📖GABA-A Alpha1 Neurons50%
mentions📖Fastigial Nucleus (Fastigial Cerebellar Nucleus) Neurons50%
mentions📖Serotonergic Dysfunction in Neurodegeneration50%
mentions📖GABA-A Gamma2 Neurons50%
mentions📖Inferior Temporal Cortex Neurons in Prosopagnosia44%
mentions📖Nucleus of the Lateral Lemniscus (LLL) Neurons44%
mentions📖Parvalbumin Neurons (PV+)44%
mentions📖GABAergic Signaling Pathway in Neurodegeneration44%