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Genetic aetiologies and corresponding ILAE epilepsy syndromes identified by exome sequencing in our patient cohort

Journal: Human Genetics

Article Title: From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort

doi: 10.1007/s00439-026-02867-w

Figure Lengend Snippet: Genetic aetiologies and corresponding ILAE epilepsy syndromes identified by exome sequencing in our patient cohort

Article Snippet: Exome libraries were prepared using the Twist Human Core Exome Kit (Twist Bioscience, San Francisco, CA, USA) and IDT xGen DNA Library Prep EZ Kit (Integrated DNA Technologies, Inc. Coralville, IA, USA).

Techniques: Sequencing, Variant Assay, In Utero