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Results 1 - 9 of 9 for Early infantile epileptic encephalopathy 14
  1. 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 Migrating ...
    https://medlineplus.gov/...ant-migrating-partial-seizures-of-infancy - Genetics
  2. CDKL5 deficiency disorder 
    ... encephalopathy CDKL5-related epilepsy CDKL5-related epileptic encephalopathy Early infantile epileptic encephalopathy 2 Genetic Testing Registry: Developmental and epileptic encephalopathy, ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  3. 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
  4. 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
  5. ARX gene 
    ... 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
  6. Lennox-Gastaut syndrome 
    ... Luna A, Rozek C. Seizure burden in severe early-life epilepsy: Perspectives from parents. Epilepsia Open. 2019 Apr 14;4(2):293-301. doi: 10.1002/epi4. ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  7. Infantile-onset spinocerebellar ataxia 
    ... L, Pihko H. Recessive twinkle mutations cause severe epileptic encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. doi: 10.1093/brain/awp045. Epub 2009 Mar 20. Citation on PubMed Lonnqvist T. Infantile-Onset Spinocerebellar Ataxia. 2009 Jan 27 [updated 2018 ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - 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. CACNA1A gene 
    ... Walsh P, Winawer MR. De novo mutations in epileptic encephalopathies. Nature. 2013 Sep 12;501(7466):217-21. ... function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. Epilepsia. ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics