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Results 1 - 4 of 4 for Developmental epileptic "encephalopathy," 24
  1. CACNA1A gene 
    ... of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. Epilepsia. ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  2. CSTB gene 
    ... in a group of severe epilepsies known as developmental and epileptic encephalopathies. CPI-B CST6 cystatin B (stefin B) EPM1 ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  3. TWNK gene 
    ... and helicase activity. J Biol Chem. 2010 Sep 24;285(39):29690-702. doi: ... cause severe epileptic encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  4. TBC1D24 gene 
    ... in people with a form of early-infantile epileptic encephalopathy (EIEE16; also called malignant migrating partial seizures of ... familial infantile myoclonic epilepsy (FIME) and progressive myoclonus epilepsy (PME). ... containing 6 TBC1 domain family member 24 isoform 1 TBC1 domain family member 24 isoform ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics