Gerarda Cappuccio to Epilepsy
This is a "connection" page, showing publications Gerarda Cappuccio has written about Epilepsy.
Connection Strength
0.874
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Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nat Commun. 2024 Aug 06; 15(1):6524.
Score: 0.129
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De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. Cell Mol Life Sci. 2024 Mar 28; 81(1):153.
Score: 0.126
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POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum. Clin Genet. 2023 08; 104(2):186-197.
Score: 0.118
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Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening. Cell Mol Life Sci. 2023 Mar 31; 80(4):110.
Score: 0.117
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Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant. Eur J Med Genet. 2022 May; 65(5):104500.
Score: 0.110
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Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature. Eur J Med Genet. 2022 Jan; 65(1):104380.
Score: 0.107
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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. Am J Hum Genet. 2021 05 06; 108(5):857-873.
Score: 0.103
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Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. Neurology. 2014 Jul 15; 83(3):e41-4.
Score: 0.064