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Developmental epileptic "encephalopathy," 60
- ... of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. Epilepsia. 2019 Sep;60(9):1881-1894. doi: 10.1111/epi.16316. ...
- ... Early infantile epileptic encephalopathy 2 Genetic Testing Registry: Developmental and epileptic encephalopathy, 2 Atypical Rett syndrome CDKL5-deficiency disorder National ...
- ... in a group of severe epilepsies known as developmental and epileptic encephalopathies. CPI-B CST6 cystatin B (stefin B) EPM1 ...