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Developmental epileptic "encephalopathy," 25
- ... in a group of severe epilepsies known as developmental and epileptic encephalopathies. ... of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1. Gene. 2000 Jan 25;242(1-2):65-73. doi: 10.1016/ ...
- ... neurons. Mutations in the ARX gene can cause developmental and epileptic encephalopathy 1 (DEE1), a disorder characterized by recurrent seizures ... GENITALIA INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29; XLID29 DEVELOPMENTAL AND EPILEPTIC ... ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX ...
- ... problems, and the other features of SCN8A-related epilepsy with encephalopathy. Because some affected children experience the loss of previously acquired skills (developmental regression) after the onset of seizures, it has ...
- ... L, Pihko H. Recessive twinkle mutations cause severe epileptic encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. ...