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المؤلفون: Ingrid Scheffer, Colleen Campbell, Samuel Berkovic, Laura Jansen, Susannah Cornes, Brenda Porter, Kristen Park, Gianpiero Cavalleri, Nicholas Stong
المساهمون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de neurologie pédiatrique
المصدر: Epilepsia
Epilepsia, Vol. 60, no.5, p. 797-806 (2019)مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Parents, Delayed Diagnosis, Adolescent, data sharing, whole exome sequencing, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, Data sequences, Seizures, Databases, Genetic, Exome Sequencing, Medicine, Humans, Exome, Medical diagnosis, Child, Exome sequencing, seizures, Retrospective Studies, Genetics, Family Health, business.industry, Information Dissemination, Siblings, Whole exome sequencing, Infant, Pathogenicity, medicine.disease, 030104 developmental biology, Neurology, Child, Preschool, Mutation, Full‐length Original Research, Data sharing, Female, Neurology (clinical), Genetic diagnosis, business, 030217 neurology & neurosurgery, Gene Discovery