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Results 1 - 10 of 15 for Developmental epileptic "encephalopathy," 30
  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. 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
  4. Malignant migrating partial seizures of infancy 
    ... partial seizures of infancy MMPSI Genetic Testing Registry: Developmental and epileptic encephalopathy, 14 Malignant migrating focal seizures of infancy National ...
    https://medlineplus.gov/...ant-migrating-partial-seizures-of-infancy - 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. SMC1A gene 
    ... of the two sex chromosomes.) This condition, called developmental and epileptic encephalopathy-85 with or without midline brain defects (or DEE85), appears to affect only females. Affected individuals develop severe, ... impairments. These individuals can also have distinctive facial ...
    https://medlineplus.gov/genetics/gene/smc1a - Genetics
  7. Epilepsy and Seizures From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Seizures/Start Here ... Seizures ... Epilepsy/Start Here ... Epilepsy ... Epilepsy is a chronic brain disorder in which groups of nerve cells, or neurons, in the brain sometimes ...
    https://www.ninds.nih.gov/.../disorders/epilepsy-and-seizures - External Health Links
  8. Pyridoxal phosphate-responsive seizures 
    ... 5'-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis. 2007 Feb;30(1):96-9. doi: 10.1007/s10545-006- ...
    https://medlineplus.gov/.../pyridoxal-phosphate-responsive-seizures - Genetics
  9. Lennox-Gastaut syndrome 
    ... or during early embryonic development. However, 3 to 30 percent of people with this condition have a family history of some type of ... Lennox-Gastaut syndrome National Organization for Rare Disorders ( ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  10. Genetic epilepsy with febrile seizures plus 
    ... J Neurogenet. 2017 Mar-Jun;31(1-2):30-36. doi: 10.1080/01677063.2017.1315417. Epub 2017 May 2. Citation on PubMed
    https://medlineplus.gov/...netic-epilepsy-with-febrile-seizures-plus - Genetics
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