BCH Children's Rare Disease Cohort (CRDC)

Individuals with epilepsy, onset at any age. Must be followed clinically at Boston Children's Hospital. Research trio-based exome and/or whole genome with CLIA confirmation of diagnostic findings. Exclusions include presence of existing genetic diagnosis or known cause for epilepsy, presence of structural brain malformation.

Gene-STEPS (Shortening Time of Evaluation in Paediatric Epilepsy Services)

Collaborative effort of consortium including BCH, Great Ormond Street Hospital, Royal Children's Hospital Melbourne and Murdoch Children's Research Institute, and The Hospital for Sick Children.~For BCH cohort, eligibility limited to individuals presenting clinically at BCH with seizure onset at less than 12 months of age. Must be enrolled within six weeks of first seizure-related presentation to BCH. Clinical trio-based rapid whole genome sequencing in a CLIA laboratory.~Exclusions include:~Simple febrile seizures, provoked seizures, genetic or acquired cause already identified, MRI findings consistent with specific genetic etiology.

Epilepsy Core

Individuals with epilepsy, onset at any age. Research trio-based exome and/or whole genome. Exclusions include presence of existing genetic diagnosis or known cause for epilepsy, presence of structural brain malformation.

Phenotyping Cohort

Individuals with diagnosed genetic epilepsies, including but not limited to PRRT2, SCN1A, SCN2A, SCN8A, PCDH19, SYNGAP1, DEPDC5, KCNQ2, CACNA1A.