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Results 1 - 10 of 10 for Developmental epileptic "encephalopathy," 28
  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. CDKL5 deficiency disorder 
    ... Early infantile epileptic encephalopathy 2 Genetic Testing Registry: Developmental and epileptic encephalopathy, 2 Atypical Rett syndrome CDKL5-deficiency disorder National ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  3. 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
  4. 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
  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. ...
    https://medlineplus.gov/genetics/gene/scn8a - Genetics
  6. Pyridoxine-dependent epilepsy 
    ... with this condition can develop severe brain dysfunction (encephalopathy). Even though seizures can be controlled with pyridoxine, neurological problems such as developmental delay and learning disorders may still occur. Pyridoxine-dependent epilepsy occurs in 1 in 100,000 to 700, ...
    https://medlineplus.gov/.../condition/pyridoxine-dependent-epilepsy - Genetics
  7. 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
  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. 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. Genetic epilepsy with febrile seizures plus 
    ... doi: 10.1093/hmg/ddh146. Epub 2004 Apr 28. Citation on PubMed Macdonald RL, Kang JQ, Gallagher MJ. Mutations in GABAA receptor subunits associated with genetic epilepsies. J Physiol. 2010 Jun 1;588(Pt 11): ...
    https://medlineplus.gov/...netic-epilepsy-with-febrile-seizures-plus - Genetics