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Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
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Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity.
Olivotto S et al.
Epilepsy & Behavior Reports, 2022
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.
Mellone S et al.
Frontiers in Genetics, 2022
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Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients.
Lamperti C et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016
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