| ADH/SDR | Short-chain Dehydrogenases/Reductases |
| ACMG | American College of Medical Genetics and Genomics |
| ASMs | Anti-Seizure Medications |
| bp | Base pairs |
| CNVs | Copy Number Variations |
| DD | Developmental Delay |
| EEG | Electroencephalogram |
| ExAC | Exome Aggregation Consortium |
| HGMD | Human Gene Mutation Database |
| IEE | Infantile Epileptic Encephalopathy |
| IEE28 | Infantile Epileptic Encephalopathy 28 |
| IED | Interictal Epileptiform Discharges |
| KO | Knockout |
| MIM | Mendelian Inheritance in Man |
| MRI | Magnetic Resonance Imaging |
| NICU | Neonatal Intensive Care Unit |
| PCR | Polymerase Chain Reaction |
| SCAR12 | Autosomal Recessive Spinocerebellar Ataxia |
| SDS | Standard Deviation Score |
| VEP | Variant Effect Predictor |
| WES | Whole Exome Sequencing |
| WOREE | WWOX-Related Epileptic Encephalopathy |
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