Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 11 for Developmental epileptic "encephalopathy," 24
  1. STXBP1 encephalopathy 
    ... history of the disorder in their family. DEE4 Developmental and epileptic encephalopathy 4 Developmental and epileptic encephalopathy, type 4 Early-infantile epileptic encephalopathy 4 EIEE4 ...
    https://medlineplus.gov/genetics/condition/stxbp1-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. KCNB1 encephalopathy 
    ... infantile, 26 KCNB1-related epilepsy Genetic Testing Registry: Developmental and epileptic encephalopathy, 26 Developmental and epileptic encephalopathy 26 National Organization ...
    https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy - Genetics
  4. CHD2 myoclonic encephalopathy 
    ... encephalopathy CHD2-related neurodevelopmental disorders Genetic Testing Registry: Developmental and epileptic encephalopathy 94 National Organization for Rare Disorders (NORD) ClinicalTrials. ...
    https://medlineplus.gov/.../condition/chd2-myoclonic-encephalopathy - Genetics
  5. CSTB gene 
    ... in a group of severe epilepsies known as developmental and epileptic encephalopathies. CPI-B CST6 cystatin B (stefin B) EPM1 ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  6. Epilepsy and Seizures From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Seizures/Start Here ... Seizures ... Epilepsy/Start Here ... Epilepsy ... National Institute of Neurological Disorders and Stroke ... Epilepsy is a chronic brain disorder in which ...
    https://www.ninds.nih.gov/.../disorders/epilepsy-and-seizures - External Health Links
  7. TWNK gene 
    ... and helicase activity. J Biol Chem. 2010 Sep 24;285(39):29690-702. doi: ... cause severe epileptic encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  8. Lennox-Gastaut syndrome 
    ... Gastaut syndrome. LGS Genetic Testing Registry: Macrocephaly and epileptic encephalopathy Lennox-Gastaut syndrome National Organization for Rare Disorders ( ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  9. TBC1D24 gene 
    ... in people with a form of early-infantile epileptic encephalopathy (EIEE16; also called malignant migrating partial seizures of ... familial infantile myoclonic epilepsy (FIME) and progressive myoclonus epilepsy (PME). ... containing 6 TBC1 domain family member 24 isoform 1 TBC1 domain family member 24 isoform ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  10. Genetic epilepsy with febrile seizures plus 
    ... j.braindev.2011.09.016. Epub 2011 Oct 24. Citation on PubMed Shi YW, Yu MJ, Long YS, Qin B, He N, Meng H, Liu XR, Deng WY, Gao MM, Yi YH, Li BM, Liao WP. Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures. Genes Brain Behav. 2012 ...
    https://medlineplus.gov/...netic-epilepsy-with-febrile-seizures-plus - Genetics
previous · 1 · 2 · next