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Results 1 - 5 of 5 for Developmental epileptic encephalopathy 94
  1. CHD2 myoclonic encephalopathy 
    ... encephalopathy CHD2-related neurodevelopmental disorders Genetic Testing Registry: Developmental and epileptic encephalopathy 94 National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/.../condition/chd2-myoclonic-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. Pyridoxal phosphate-responsive seizures 
    ... of pyridoxine metabolism. Mol Genet Metab. 2008 Aug;94(4):431-434. doi: ... epileptic encephalopathy caused by mutations in the PNPO gene encoding ...
    https://medlineplus.gov/.../pyridoxal-phosphate-responsive-seizures - Genetics
  4. Pitt-Hopkins syndrome 
    ... are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet. ...
    https://medlineplus.gov/genetics/condition/pitt-hopkins-syndrome - Genetics
  5. TBC1D24 gene 
    ... in people with a form of early-infantile epileptic encephalopathy (EIEE16; also called malignant migrating partial seizures of ... TB. Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. Am J Hum Genet. 2014 Jan 2;94(1):144-52. doi: 10.1016/j.ajhg. ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics