Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact
Ponghatai Boonsimma, Chupong Ittiwut, Wuttichart Kamolvisit, Rungnapa Ittiwut, Wanna Chetruengchai, Chureerat Phokaew, Chalurmpon Srichonthong, Sathida Poonmaksatit, Tayard Desudchit, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Topics & Concepts
EpilepsyExome sequencingGenetic testingMedicineMedical geneticsPediatricsEpilepsy syndromesExomeBioinformaticsGeneticsInternal medicineBiologyMutationGenePsychiatryEpilepsy research and treatmentGenomics and Rare DiseasesGenetics and Neurodevelopmental Disorders