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Results 1 - 10 of 12 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. Dravet Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Epilepsy/Specifics ... Epilepsy ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Dravet syndrome is an epilepsy ...
    https://www.ninds.nih.gov/.../disorders/dravet-syndrome - External Health Links
  7. Epilepsy and Seizures From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Epilepsy/Start Here ... Epilepsy ... Seizures/Start Here ... Seizures ... 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
  8. 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
  9. 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
  10. 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
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