Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes
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European journal of human genetics - ISSN 1018-4813- (2024) p.
Comprehensive scoping review of fenfluramine's role in managing generalized tonic-clonic seizures in developmental and epileptic encephalopathies
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Epilepsia - ISSN 0013-9580-65:8 (2024) p. 2186-2199
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies
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Epilepsia - ISSN 0013-9580-65:4 (2024) p. 1046-1059
From diagnosis to treatment in genetic epilepsies : implementation of precision medicine in real-world clinical practice
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European journal of paediatric neurology - ISSN 1090-3798-48 (2024) p. 46-60
GABRA1‐related disorders : from genetic to functional pathways
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Annals of neurology - ISSN 0364-5134-91:1 (2024) p. 27-41