Molecular and clinical descriptions of patients with GABA A receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation
γ-Aminobutyric acid (GABA) -receptor subunit variants have recently been associated with neurodevelopmental disorders and/or epilepsy. The phenotype linked with each gene is becoming better known. Because of the common molecular structure and physiological role of these phenotypes, it seemed interes...
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Veröffentlicht in: | Epilepsia (Copenhagen) 2022-10, Vol.63 (10), p.2519-2533 |
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Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Sprache: | eng |
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