title: GRIN2A variant A1057P
design: Patients and their parents genomic DNA (if available) was extracted from peripheral blood samples with TGuide Blood Genomic DNA Kit (Tiangen, China). Whole-exome sequencing (trio-based if possible) was conducted by BGI Genomics (China) or Kangso (China) using Illumina Nova series platforms. Raw data that passed the quality filter was aligned to the Genome Reference Consortium Human Build 37(GRCh37). ANNOVAR annotated the GRIN2A variants based on the transcript NM_000833.4 to collect amino acid alterations.