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Results 1 - 9 of 9 for Developmental epileptic "encephalopathy," 4
  1. CACNA1A gene 
    ... how both types of changes can lead to developmental and epileptic encephalopathy. APCA brain calcium channel 1 CAC1A_HUMAN CACNL1A4 calcium channel, alpha 1A subunit calcium channel, L type, alpha-1 polypeptide, isoform 4 calcium channel, voltage-dependent, P/Q type, alpha ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  2. KCNB1 gene 
    ... genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct 4. Citation on PubMed de Kovel CGF, Syrbe S, ...
    https://medlineplus.gov/genetics/gene/kcnb1 - Genetics
  3. ARX gene 
    ... neurons. ... normal ARX protein contains four regions where a protein building block (amino acid) ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  4. 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
  5. SCN8A gene 
    ... Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability. Front Genet. 2013 Oct 28;4:213. doi: 10.3389/fgene.2013.00213. Citation ...
    https://medlineplus.gov/genetics/gene/scn8a - 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. SLC35A2 gene 
    ... N, Imai K. A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features ... encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mutat. 2013 Dec;34(12):1708-14. ...
    https://medlineplus.gov/genetics/gene/slc35a2 - Genetics
  8. TWNK gene 
    ... L, Pihko H. Recessive twinkle mutations cause severe epileptic encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  9. PURA gene 
    ... microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. Am J Med Genet A. 2011 Apr;155A(4):732-6. doi: 10.1002/ajmg.a.33891. ...
    https://medlineplus.gov/genetics/gene/pura - Genetics