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Results 1 - 3 of 3 for Developmental epileptic "encephalopathy," 38
  1. STXBP1 encephalopathy 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
  2. SMC1A gene 
    ... of the two sex chromosomes.) This condition, called developmental and epileptic encephalopathy-85 with or without midline brain defects (or DEE85), appears to affect only females. Affected individuals develop severe, ... impairments. These individuals can also have distinctive facial ...
    https://medlineplus.gov/genetics/gene/smc1a - Genetics
  3. SLC35A2 gene 
    ... therapeutic approach. J Inherit Metab Dis. 2015 Sep;38(5):931-40. doi: ... epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features ...
    https://medlineplus.gov/genetics/gene/slc35a2 - Genetics