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Results 1 - 10 of 16 for Early infantile epileptic encephalopathy 5
  1. ARX gene 
    ... XLID syndromes. ARX gene mutations account for 9.5 percent of all cases of XLID.ARX gene mutations cause several XLID syndromes, 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
  2. CDKL5 deficiency disorder 
    ... encephalopathy CDKL5-related epilepsy CDKL5-related epileptic encephalopathy Early infantile epileptic encephalopathy 2 ... T. CDKL5-Related Disorders: From Clinical Description to Molecular Genetics. Mol Syndromol. 2012 Apr;2(3-5):137-152. doi: 10.1159/000331333. Epub 2011 ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  3. SCN8A-related epilepsy with encephalopathy 
    ... no history of the disorder in their family. Early infantile epileptic encephalopathy 13 EIEE13 SCN8A encephalopathy Genetic Testing Registry: Developmental ...
    https://medlineplus.gov/...cn8a-related-epilepsy-with-encephalopathy - Genetics
  4. STXBP1 encephalopathy 
    ... encephalopathy 4 Developmental and epileptic encephalopathy, type 4 Early-infantile epileptic encephalopathy 4 EIEE4 STXBP1 encephalopathy with epilepsy STXBP1 epileptic ...
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
  5. Malignant migrating partial seizures of infancy 
    ... in embryonic development (called a de novo mutation). Early infantile epileptic encephalopathy 14 EIEE14 Malignant migrating partial epilepsy of infancy ...
    https://medlineplus.gov/...ant-migrating-partial-seizures-of-infancy - Genetics
  6. SLC35A2-congenital disorder of glycosylation 
    ... CDGIIm Congenital disorder of glycosylation, type IIm EIEE22 Epileptic encephalopathy, early infantile, 22 SLC35A2-CDG Genetic Testing Registry: SLC35A2-congenital ...
    https://medlineplus.gov/...35a2-congenital-disorder-of-glycosylation - Genetics
  7. Microcephaly, seizures, and developmental delay 
    ... show signs and symptoms of the condition. EIEE10 Epileptic encephalopathy, early infantile, 10 MCSZ Genetic Testing Registry: Microcephaly, seizures, and ...
    https://medlineplus.gov/...ocephaly-seizures-and-developmental-delay - Genetics
  8. Developmental and epileptic encephalopathy 1 
    ... cannot pass X-linked traits to their sons. Early infantile epileptic encephalopathy-1 EIEE1 Epileptic encephalopathy, early infantile, 1 Infantile epileptic-dyskinetic encephalopathy ISSX ISSX1 X- ...
    https://medlineplus.gov/...elopmental-and-epileptic-encephalopathy-1 - Genetics
  9. TBC1D24 gene 
    ... been 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
  10. GRIN2B-related neurodevelopmental disorder 
    ... history of the disorder in their family. EIEE27 Epileptic encephalopathy, early infantile, 27 GRIN2B encephalopathy GRIN2B related syndrome Genetic Testing ...
    https://medlineplus.gov/...rin2b-related-neurodevelopmental-disorder - Genetics
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