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Results 1 - 10 of 16 for Epileptic "encephalopathy," early "infantile," 1
  1. Developmental and epileptic encephalopathy 1 
    ... their sons. Early infantile epileptic encephalopathy-1 EIEE1 Epileptic encephalopathy, early infantile, 1 Infantile epileptic-dyskinetic encephalopathy ISSX ISSX1 X-linked ...
    https://medlineplus.gov/...elopmental-and-epileptic-encephalopathy-1 - Genetics
  2. CDKL5 gene 
    The CDKL5 gene provides instructions for making a protein that is found in cells and tissues throughout the body. However, it is most active in the brain ...
    https://medlineplus.gov/genetics/gene/cdkl5 - Genetics
  3. ARX gene 
    ... syndromes, including X-linked lissencephaly with abnormal genitalia, early infantile epileptic encephalopathy 1, and Partington syndrome (described above). Another is X- ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  4. SCN8A-related epilepsy with encephalopathy 
    ... include involuntary muscle contractions that occur before age 1 (infantile ... normal early development but begin to lose previously acquired skills ( ...
    https://medlineplus.gov/...cn8a-related-epilepsy-with-encephalopathy - Genetics
  5. STXBP1 encephalopathy 
    ... suggests that a shortage of syntaxin-binding protein 1 also impairs neuron development in the brain, which ... type 4 Early-infantile epileptic encephalopathy 4 EIEE4 STXBP1 encephalopathy with epilepsy ...
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
  6. KCNB1 encephalopathy 
    ... an altered protein that results in impaired Kv2.1 channel function. As a result, the channels cannot ... Early infantile epileptic encephalopathy 26 EIEE26 Epileptic encephalopathy, early infantile, 26 ...
    https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy - Genetics
  7. Microcephaly, seizures, and developmental delay 
    ... show signs and symptoms of the condition. EIEE10 ... expanding the spectrum of PNKP mutations. Neurogenetics. 2013 Feb;14(1):43-51. doi: 10.1007/s10048-012-0351- ...
    https://medlineplus.gov/...ocephaly-seizures-and-developmental-delay - Genetics
  8. Lennox-Gastaut syndrome 
    ... in an affected person's parent or during early embryonic development. However, 3 to 30 percent of people with this condition ... Increased risk of death among children with Lennox-Gastaut syndrome and infantile spasms. J Child Neurol. 2010 Apr;25(4): ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  9. GRIN2B-related neurodevelopmental disorder 
    ... the disorder in their family. EIEE27 ... GRIN2B Impairs Differentiation in Human Neurons. Stem Cell Reports. 2018 Jul 10;11(1):183-196. doi: 10.1016/j.stemcr.2018. ...
    https://medlineplus.gov/...rin2b-related-neurodevelopmental-disorder - Genetics
  10. TBC1D24 gene 
    ... been identified in people with a form of early-infantile epileptic encephalopathy (EIEE16; ... ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
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