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Results 1 - 9 of 9 for Developmental epileptic encephalopathy 100
  1. Pyridoxine-dependent epilepsy 
    ... with this condition can develop severe brain dysfunction (encephalopathy). Even though ... Pyridoxine-dependent epilepsy occurs in 1 in 100,000 to 700,000 individuals. At least 100 ...
    https://medlineplus.gov/.../condition/pyridoxine-dependent-epilepsy - Genetics
  2. Developmental and epileptic encephalopathy 1 
    Developmental and epileptic encephalopathy 1 (DEE1) is a seizure disorder characterized by a type of seizure known as infantile spasms. ... syndrome X-linked West syndrome Genetic Testing Registry: Developmental and epileptic encephalopathy, 1 Genetic Testing Registry: West syndrome Infantile spasms ...
    https://medlineplus.gov/...elopmental-and-epileptic-encephalopathy-1 - Genetics
  3. GRIN2B-related neurodevelopmental disorder 
    ... GRIN2B encephalopathy GRIN2B related syndrome Genetic Testing Registry: Developmental and epileptic encephalopathy, 27 Genetic Testing Registry: Intellectual disability, autosomal dominant ...
    https://medlineplus.gov/...rin2b-related-neurodevelopmental-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. SCN8A gene 
    ... by generating and transmitting electrical signals. More than 100 mutations in the SCN8A gene have been found to cause SCN8A-related epilepsy with encephalopathy. This condition is characterized by recurrent seizures (epilepsy), ...
    https://medlineplus.gov/genetics/gene/scn8a - Genetics
  7. Lennox-Gastaut syndrome 
    ... mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. Am J Hum Genet. 2014 Oct 2;95(4):360-70. doi: 10.1016/j.ajhg.2014.08.013. Epub 2014 Sep 25. Erratum In: Am J Hum Genet. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016. ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - 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. GLUT1 deficiency syndrome 
    ... Klepper J. GLUT1 deficiency syndrome in clinical practice. Epilepsy Res. 2012 Jul;100(3):272-7. doi: 10.1016/j.eplepsyres. ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics