Results 1 -
4
of
4
for
Developmental epileptic "encephalopathy," 29
- ... WITH ABNORMAL GENITALIA INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29; XLID29 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1; DEE1 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX ...
- ... 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. Epub 2019 Aug 29. Citation on PubMed Kors EE, Haan J, Giffin ...
- ... in people with a form of early-infantile epileptic encephalopathy (EIEE16; also called malignant migrating partial seizures of ...
- ... L, Pihko H. Recessive twinkle mutations cause severe epileptic encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. ...