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Results 1 - 10 of 11 for Infantile encephalopathy
  1. SLC19A3 gene 
    ... described above). These include a disorder called early infantile lethal encephalopathy and another disorder that begins in early infancy ... reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain. 2013 May;136(Pt 5):1534-43. ...
    https://medlineplus.gov/genetics/gene/slc19a3 - Genetics
  2. UNC80 gene 
    ... UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. Am J Hum Genet. 2016 Jan 7;98( ...
    https://medlineplus.gov/genetics/gene/unc80 - Genetics
  3. ARX gene 
    ... including X-linked lissencephaly with abnormal genitalia, early infantile epileptic encephalopathy 1, and Partington syndrome (described above). Another is ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  4. TBC1D24 gene 
    ... identified in people with a form of early-infantile epileptic encephalopathy (EIEE16; also called malignant migrating partial seizures of ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  5. SERAC1 gene 
    ... Manov I, Saada A, Sprecher E, Mandel H. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations ...
    https://medlineplus.gov/genetics/gene/serac1 - Genetics
  6. DEPDC5 gene 
    ... muscle contractions. The DEPDC5 gene variants that cause infantile spasms ... and epileptic encephalopathy (DEE). DEEs are a group of severe epileptic ...
    https://medlineplus.gov/genetics/gene/depdc5 - Genetics
  7. SCN8A gene 
    ... can cause movement problems and seizures called benign infantile seizures, which ... BFIS5 CERIII CIAT hNa6/Scn8a voltage-gated sodium ...
    https://medlineplus.gov/genetics/gene/scn8a - Genetics
  8. TWNK gene 
    ... Sajantila A, Lonnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset ... in early onset encephalopathy with mtDNA depletion. Brain. 2007 Nov;130(Pt ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  9. SCN2A gene 
    ... seen in children with SCN2A-developmental and epileptic encephalopathy can ... infantile seizures (BFIE), also called self-limited infantile epilepsy ( ...
    https://medlineplus.gov/genetics/gene/scn2a - Genetics
  10. CDKL5 gene 
    ... an independent clinical entity associated with early-onset encephalopathy. Eur J Hum Genet. 2013 Mar;21(3): ...
    https://medlineplus.gov/genetics/gene/cdkl5 - Genetics
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