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Results 1 - 10 of 15 for Developmental epileptic "encephalopathy," 18
  1. CHD2 myoclonic encephalopathy 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94; DEE94 PubMed Lund C, Brodtkorb E, Oye AM, Rosby O, Selmer KK. CHD2 mutations in Lennox-Gastaut syndrome. Epilepsy Behav. 2014 Apr;33:18-21. doi: 10.1016/j.yebeh.2014.02. ...
    https://medlineplus.gov/.../condition/chd2-myoclonic-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. 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
  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. 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
  8. Lennox-Gastaut syndrome 
    ... Lennox-Gastaut syndrome. Epilepsy Behav. 2014 Apr;33:18-21. doi: 10.1016/j.yebeh.2014.02.005. Epub 2014 Mar 12. Citation on PubMed McTague A, Howell KB, Cross JH, Kurian MA, Scheffer IE. The genetic landscape of the epileptic encephalopathies of infancy and childhood. Lancet Neurol. 2016 Mar; ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - 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. GLUT1 deficiency syndrome 
    ... spasticity (dystonia 9); paroxysmal exercise-induced dyskinesia and epilepsy (dystonia 18); and certain types of epilepsy. In rare cases, people with variants of GLUT1 ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
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