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Developmental epileptic "encephalopathy," 17
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... inherited SCN8A epilepsy mutations detected by gene panel analysis. Epilepsy Res. 2017 Jan;129:17-25. doi: 10.1016/j.eplepsyres.2016.11. ...
- ... history of the disorder in their family. DEE4 Developmental and epileptic encephalopathy 4 Developmental and epileptic encephalopathy, type 4 Early-infantile epileptic encephalopathy 4 EIEE4 ...
- ... mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes Brain Behav. 2018 Nov;17(8):e12456. doi: 10.1111/gbb.12456. Epub ...
- ... have neurological problems, such as abnormal brain function (encephalopathy), recurrent seizures (epilepsy), intellectual disability, difficulty coordinating movements (ataxia), or involuntary ...
- GABA-transaminase deficiency is a ... excessive sleepiness (hypersomnolence). Affected babies may grow faster in length than ...