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Genetic testing in paediatric neurological disorders

29 Jul 2026

Abstract excerpt

AIM: To evaluate genetic testing practices (exome sequencing, commercial panel, and in-house genetic panels) from a large tertiary hospital for determining gaps, and to identify clinical associations with pathogenic genetic variants. METHOD: This retrospective cohort study included patients (age < 18 years) from a neurology department for whom genetic testing was requested for neurological disorders, epilepsy,...

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PMID: 42528117
DOI: 10.1111/dmcn.70430

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