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Results 1 - 10 of 10 for Developmental epileptic "encephalopathy," 2
  1. SMC1A gene 
    ... is on the X chromosome, one of the two sex chromosomes.) This condition, called developmental and epileptic encephalopathy-85 with or without midline brain defects (or ...
    https://medlineplus.gov/genetics/gene/smc1a - Genetics
  2. CSTB gene 
    ... in a group of severe epilepsies known as developmental and epileptic encephalopathies. ... B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1. Gene. 2000 Jan 25;242(1-2):65-73. doi: 10.1016/s0378-1119(99) ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  3. CACNA1A gene 
    ... Ca2+ channels. J Cell Physiol. 2008 Feb;214(2):422-33. doi: 10.1002/jcp.21216. ... encephalopathies in the spectrum of Lennox-Gastaut syndrome. Epilepsia. ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  4. 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
  5. SCN8A gene 
    ... Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. Ann Clin Transl Neurol. 2015 Dec 21;3(2):114-23. doi: 10.1002/acn3.276. eCollection ...
    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. TBC1D24 gene 
    ... in people with a form of early-infantile epileptic encephalopathy (EIEE16; also called malignant migrating partial seizures of ... TB. Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. Am J Hum Genet. 2014 Jan 2;94(1):144-52. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  9. 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
  10. 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