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Results 1 - 9 of 9 for Developmental epileptic "encephalopathy," 8
  1. 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
  2. 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
  3. 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
  4. 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
  5. CSTB gene 
    ... in a group of severe epilepsies known as developmental and epileptic encephalopathies. CPI-B CST6 cystatin B (stefin B) EPM1 ... PubMed Lehesjoki AE. Molecular background of progressive myoclonus ... early developmental delay, and severe dyskinesia. Neurology. 2016 Mar 1; ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  6. GRIN2A gene 
    ... of speech and language skills and sometimes other developmental skills; and in many cases, recurrent seizures (epilepsy). Landau-Kleffner syndrome (LKS) and epileptic encephalopathy with continuous spike-and-wave during sleep (ECSWS) ...
    https://medlineplus.gov/genetics/gene/grin2a - Genetics
  7. SCN8A gene 
    ... problems, and the other features of SCN8A-related epilepsy with encephalopathy. Because some affected children experience the loss of previously acquired skills (developmental regression) after the onset of seizures, it has ...
    https://medlineplus.gov/genetics/gene/scn8a - Genetics
  8. TBC1D24 gene 
    ... in people with a form of early-infantile epileptic encephalopathy (EIEE16; also called malignant migrating partial seizures of ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  9. PURA gene 
    ... in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 ... delays, distinctive facial features, and delayed myelination. Am ...
    https://medlineplus.gov/genetics/gene/pura - Genetics