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Results 1 - 10 of 16 for Developmental epileptic "encephalopathy," 19
  1. KCNB1 encephalopathy 
    ... doi: 10.1002/ana.24263. Epub 2014 Sep 19. Citation on PubMed
    https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy - Genetics
  2. CACNA1A gene 
    ... of-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
  3. SCN2A gene 
    ... in the SCN2A gene are associated with SCN2A-developmental and epileptic encephalopathy. Developmental and epileptic encephalopathies (DEEs) are a group ...
    https://medlineplus.gov/genetics/gene/scn2a - Genetics
  4. Epilepsy of infancy with migrating focal seizures 
    ... one of a group of severe epilepsies called developmental and epileptic encephalopathies (DEEs). These disorders are characterized by significant developmental ...
    https://medlineplus.gov/...-of-infancy-with-migrating-focal-seizures - Genetics
  5. ARX gene 
    ... neurons. Mutations in the ARX gene can cause developmental and epileptic encephalopathy 1 (DEE1), a disorder characterized by recurrent seizures ... GENITALIA INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29; XLID29 DEVELOPMENTAL AND EPILEPTIC ... ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  6. GRIN2B-related neurodevelopmental disorder 
    ... GRIN2B encephalopathy GRIN2B related syndrome Genetic Testing Registry: Developmental and epileptic encephalopathy, 27 Genetic Testing Registry: Intellectual disability, autosomal dominant ...
    https://medlineplus.gov/...rin2b-related-neurodevelopmental-disorder - Genetics
  7. CDKL5 deficiency disorder 
    ... Early infantile epileptic encephalopathy 2 Genetic Testing Registry: Developmental and epileptic encephalopathy, 2 Atypical Rett syndrome CDKL5-deficiency disorder National ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  8. KCNB1 gene 
    ... genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. ... Jr, Kearney JA. De novo KCNB1 mutations in epileptic encephalopathy. Ann Neurol. 2014 Oct;76(4):529-540. ... Epub 2014 Sep 19. Citation on PubMed
    https://medlineplus.gov/genetics/gene/kcnb1 - Genetics
  9. DEPDC5 gene 
    ... identified in some people with a form of developmental and epileptic encephalopathy (DEE). DEEs are a group of severe epileptic disorders that are characterized by developmental delays and abnormal brain function (encephalopathy) that worsens over time. Affected individuals often have ...
    https://medlineplus.gov/genetics/gene/depdc5 - Genetics
  10. KCNT1 gene 
    ... have also been associated with a type of developmental and epileptic encephalopathy (DEE). DEEs are a group of epileptic disorders that are characterized by developmental delays and abnormal brain function (encephalopathy) that worsens over time. Affected individuals often have ...
    https://medlineplus.gov/genetics/gene/kcnt1 - Genetics
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